Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.G911D
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SALL4

NM_020436.5:p.G911D

Associated Papers

Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome.

Watson JA et al.

Life Science Alliance, 2023

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.

Ma X et al.

Molecular Medicine Reports, 2022

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU et al.

European Journal of Medical Genetics, 2016

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

Diehl A et al.

American Journal of Medical Genetics. Part A, 2015

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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."