Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 ; volume:16 ; number:1 ; day:6 ; month:10 ; year:2023 ; pages:1-22 ; date:12.2023
BMC medical genomics ; 16, Heft 1 (6.10.2023), 1-22, 12.2023

Creator: Daneshi, Ahmad
Garshasbi, Masoud
Farhadi, Mohammad
Falavarjani, Khalil Ghasemi
Vafaee-Shahi, Mohammad
Almadani, Navid
Zabihi, MohammadSina
Ghalavand, Mohammad Amin
Falah, Masoumeh

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-023-01682-w

URN: urn:nbn:de:101:1-2024020112343226331990

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:24 AM CEST

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Daneshi, Ahmad
Garshasbi, Masoud
Farhadi, Mohammad
Falavarjani, Khalil Ghasemi
Vafaee-Shahi, Mohammad
Almadani, Navid
Zabihi, MohammadSina
Ghalavand, Mohammad Amin
Falah, Masoumeh
SpringerLink (Online service)

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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12

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Other Objects (12)

FMCGP: frameshift mutation cartesian genetic programming

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Frameshift and wild-type proteins are often highly similar because the genetic code and genomes were optimized for frameshift tolerance

A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

FMCGP: frameshift mutation cartesian genetic programming

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Frameshift and wild-type proteins are often highly similar because the genetic code and genomes were optimized for frameshift tolerance

A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

FMCGP: frameshift mutation cartesian genetic programming

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Frameshift and wild-type proteins are often highly similar because the genetic code and genomes were optimized for frameshift tolerance

A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

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