FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: look beyond the lungs!

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Clinical Genetics, S.

Event: Veröffentlichung

(where): Augsburg

(who): Universität Augsburg

(when): 2021

Event: Veröffentlichung

(who): Wiley

(when): 2021

Creator: Schuch, Luise A.
Forstner, Maria
Rapp, Christina K.
Li, Yang
Smith, Desiree E. C.
Mendes, Marisa I.
Delhommel, Florent
Sattler, Michael
Emiralioğlu, Nagehan
Taskiran, Ekim Z.
Orhan, Diclehan
Kiper, Nural
Rohlfs, Meino
Jeske, Tim
Hastreiter, Maximilian
Gerstlauer, Michael
Torrent‐Vernetta, Alba
Moreno‐Galdó, Antonio
Kammer, Birgit
Brasch, Frank
Reu‐Hofer, Simone
Griese, Matthias

DOI: 10.1111/cge.13943

URN: urn:nbn:de:bvb:384-opus4-844792

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 17.09.2025, 3:57 PM CEST

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Associated

Schuch, Luise A.
Forstner, Maria
Rapp, Christina K.
Li, Yang
Smith, Desiree E. C.
Mendes, Marisa I.
Delhommel, Florent
Sattler, Michael
Emiralioğlu, Nagehan
Taskiran, Ekim Z.
Orhan, Diclehan
Kiper, Nural
Rohlfs, Meino
Jeske, Tim
Hastreiter, Maximilian
Gerstlauer, Michael
Torrent‐Vernetta, Alba
Moreno‐Galdó, Antonio
Kammer, Birgit
Brasch, Frank
Reu‐Hofer, Simone
Griese, Matthias
Universität Augsburg
Wiley

Time of origin

2021

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FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

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Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Bi-allelic and tri-allelic 5-HTTLPR polymorphisms and triptan non-response in cluster headache

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

PolyHaplotyper: haplotyping in polyploids based on bi-allelic marker dosage data

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility

Genotype calling in tetraploid species from bi-allelic marker data using mixture models

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Bi-allelic and tri-allelic 5-HTTLPR polymorphisms and triptan non-response in cluster headache

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

PolyHaplotyper: haplotyping in polyploids based on bi-allelic marker dosage data

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility

Genotype calling in tetraploid species from bi-allelic marker data using mixture models

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

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FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: look beyond the lungs!

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Other Objects (12)

FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Bi-allelic and tri-allelic 5-HTTLPR polymorphisms and triptan non-response in cluster headache

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

PolyHaplotyper: haplotyping in polyploids based on bi-allelic marker dosage data

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility

Genotype calling in tetraploid species from bi-allelic marker data using mixture models

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Bi-allelic and tri-allelic 5-HTTLPR polymorphisms and triptan non-response in cluster headache

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

PolyHaplotyper: haplotyping in polyploids based on bi-allelic marker dosage data

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility

Genotype calling in tetraploid species from bi-allelic marker data using mixture models

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!

Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Bi-allelic and tri-allelic 5-HTTLPR polymorphisms and triptan non-response in cluster headache

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

PolyHaplotyper: haplotyping in polyploids based on bi-allelic marker dosage data

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility

Genotype calling in tetraploid species from bi-allelic marker data using mixture models

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

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