Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.N135fs
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PGM1

NM_002633.3:p.N135fs

Associated Papers

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.

Tian WT et al.

Neuromuscular Disorders : Nmd, 2019

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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."