Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.P161S
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NT5C3A

NM_001002010.5:p.P161S

Associated Papers

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

Stum M et al.

Human Mutation, 2006

Schwartz-Jampel syndrome and perlecan deficiency.

Stum M et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005

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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."