Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R120P
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TWIST1

NM_000474.4:p.R120P

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_MOESM2_ESM.pdf

Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.

Bouard C et al.

Bmc Structural Biology, 2017

Deciphering the molecular mechanisms underlying the binding of the TWIST1/E12 complex to regulatory E-box sequences.

Bouard C et al.

Nucleic Acids Research, 2016

The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.

Foo R et al.

Plastic and Reconstructive Surgery, 2009

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.

El Ghouzzi V et al.

Febs Letters, 2001

Mutations in the human TWIST gene.

Gripp KW et al.

Human Mutation, 2000

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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."