Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.Q869delFs
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SALL4

NM_020436.5:p.Q869delFs

Associated Papers

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

IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.

Paradisi I et al.

American Journal of Medical Genetics. Part A, 2007

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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."