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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYRF

Variant:p.E700Q

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MYRF

NM_001127392.3:p.E700Q

hg38:chr11:61779347 G>C

Associated Papers

Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.

An H et al.

Scientific Reports, 2020

31964908 (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."