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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPZ

Variant:p.K211delFs

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MPZ

NM_000530.8:p.K211delFs

hg38:chr1:161306120 CT>C

Associated Papers

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Wang Y et al.

Scientific Reports, 2016

27353517 (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."