Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.L163F
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TWIST1

NM_000474.4:p.L163F

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

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

Xu Y et al.

Gene, 2018

Mutations in the human TWIST gene.

Gripp KW et al.

Human Mutation, 2000

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

El Ghouzzi V et al.

European Journal of Human Genetics : Ejhg, 1999

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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."