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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPZ

Variant:p.R214delFs

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MPZ

NM_000530.8:p.R214delFs

hg38:chr1:161306112 CG>C

Associated Papers

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

Slaba K et al.

Scientific Reports, 2024

39567597 (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."