Varaico: Literature-Extracted Genetic Variants

Gene:DLX5
Variant:p.E39*
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DLX5

NM_005221.6:p.E39*

Associated Papers

A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.

Ullah A et al.

Molecular Syndromology, 2017

Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1.

Ullah A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Sowińska-Seidler A et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014

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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."