Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V38_S44delFs
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MPZ

NM_000530.8:p.V38_S44delFs

Associated Papers

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

Sánchez-Mejías A et al.

Journal of Molecular Medicine (berlin, Germany), 2010

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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."