Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.P142L
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SHOX

NM_000451.4:p.P142L

Associated Papers

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

Falcinelli C et al.

Journal of Medical Genetics, 2002

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

Rappold GA et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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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."