Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.D157A
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TWIST1

NM_000474.4:p.D157A

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

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

de Heer IM et al.

Plastic and Reconstructive Surgery, 2005

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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."