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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOM2

Variant:p.N1084S

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MYOM2

NM_003970.4:p.N1084S

hg38:chr8:2116030 A>G

Associated Papers

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Emmanuele V et al.

Muscle & Nerve, 2011

21996807 (PubMed )

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