Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R191M
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TWIST1

NM_000474.4:p.R191M

Associated Papers

A Twist-Box domain of the C. elegans Twist homolog, HLH-8, plays a complex role in transcriptional regulation.

Gruss MJ et al.

Genetics, 2023

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

Saethre-Chotzen syndrome: a case report.

Peña WA et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2010

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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."