Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.W164*
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SHOX

NM_000451.4:p.W164*

Associated Papers

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Gürsoy S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.

Choi WB et al.

Annals of Pediatric Endocrinology & Metabolism, 2015

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G et al.

Journal of Medical Genetics, 2007

High incidence of SHOX anomalies in individuals with short stature.

Huber C et al.

Journal of Medical Genetics, 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."