Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2092-9293
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia ; volume:44 ; number:6 ; day:2 ; month:3 ; year:2022 ; pages:683-690 ; date:6.2022
Genes & genomics ; 44, Heft 6 (2.3.2022), 683-690, 6.2022
- Urheber
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Gong, Lei
Odilov, Bekzod
Han, Feng
Liu, Fuqiang
Sun, Yujing
Zhang, Ningxin
Zuo, Xiaolin
Yang, Jiaojiao
Wang, Shouyu
Hou, Xinguo
Ren, Jianmin
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1007/s13258-022-01229-w
- URN
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urn:nbn:de:101:1-2022072119181031776258
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:34 MESZ
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Beteiligte
- Gong, Lei
- Odilov, Bekzod
- Han, Feng
- Liu, Fuqiang
- Sun, Yujing
- Zhang, Ningxin
- Zuo, Xiaolin
- Yang, Jiaojiao
- Wang, Shouyu
- Hou, Xinguo
- Ren, Jianmin
- SpringerLink (Online service)
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FMCGP: frameshift mutation cartesian genetic programming
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report
A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
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A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
MET mutation causes muscular dysplasia and arthrogryposis
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Identification of RUNX2 variants associated with cleidocranial dysplasia
FMCGP: frameshift mutation cartesian genetic programming
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report
A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle