Varaico: Literature-Extracted Genetic Variants

Gene:GPD1
Variant:p.I119fs
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GPD1

NM_001257199.2:p.I119fs

Associated Papers

Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia.

Lin H et al.

Frontiers in Genetics, 2021

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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."