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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PJVK

Variant:p.H339L

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PJVK

NM_001042702.5:p.H339L

hg38:chr2:178461231 A>T

Associated Papers

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.

Nishadham V et al.

Journal of Neuromuscular Diseases, 2024

38108359 (PubMed )

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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."