Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.R905*
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SALL4

NM_020436.5:p.R905*

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

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Elmakky A et al.

Current Genomics, 2015

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

A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.

Terhal P et al.

American Journal of Medical Genetics. Part A, 2006

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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."