Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.S87delFs
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PYGM

NM_005609.4:p.S87delFs

Associated Papers

Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene.

Jiang WZ et al.

Yi Chuan = Hereditas, 2022

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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."