Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S176R
Back to variants list

TWIST1

NM_000474.4:p.S176R

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

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Topa A et al.

American Journal of Medical Genetics. Part A, 2020

Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

Xu Y et al.

Gene, 2018

Clinical and genetic characteristics of craniosynostosis in Hungary.

Bessenyei B et al.

American Journal of Medical Genetics. Part A, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."