Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.Y199*
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SHOX

NM_000451.4:p.Y199*

Associated Papers

SHOX mutations.

Hintz RL

Reviews in Endocrine & Metabolic Disorders, 2002

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

SHOX point mutations in dyschondrosteosis.

Huber C et al.

Journal of Medical Genetics, 2001

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