Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.E21*
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TWIST1

NM_000474.4:p.E21*

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

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

Kress W et al.

European Journal of Human Genetics : Ejhg, 2006

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