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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYMK

Variant:p.L85L

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MYMK

NM_001080483.3:p.L85L

hg38:chr9:133519020 G>A

Associated Papers

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA et al.

Nature Communications, 2017

28681861 (PubMed )

Supplement: ncomms16077-s1.pdf

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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."