Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G83S
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TWIST1

NM_000474.4:p.G83S

Associated Papers

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.

Chen RZ et al.

Scientific Reports, 2020

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients.

Deng X et al.

Pediatric Cardiology, 2015

Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.

Yang CF et al.

Human Mutation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."