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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS7

Variant:p.V147M

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NDUFS7

NM_024407.5:p.V147M

hg38:chr19:1391149 G>A

Associated Papers

Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.

Zeiger WA et al.

Jimd Reports, 2018

29453517 (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."