Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Y103delFs
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TWIST1

NM_000474.4:p.Y103delFs

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

32051525 (PubMed )
Supplement: 41598_2020_59455_MOESM3_ESM.pdf

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Cai J et al.

Human Genetics, 2003

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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."