Varaico: Literature-Extracted Genetic Variants

Gene:GMPPA
Variant:p.R320P
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GMPPA

NM_013335.4:p.R320P

Associated Papers

A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.

Benítez EO et al.

Molecular Syndromology, 2018

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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."