Varaico: Literature-Extracted Genetic Variants

Gene:PGAM2
Variant:p.R40Q
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PGAM2

NM_000290.4:p.R40Q

Associated Papers

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

D Hidalgo-Santos A et al.

International Journal of Endocrinology and Metabolism, 2018

30323850 (PubMed )
Supplement: ijem-16-03-67329-s001.pdf

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).

Swaika A et al.

Case Reports in Genetics, 2016

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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."