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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPZ

Variant:p.N131T

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MPZ

NM_000530.8:p.N131T

hg38:chr1:161306764 T>G

Associated Papers

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 2019

31349857 (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."