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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTCH2

Variant:p.V289fs

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MTCH2

NM_014342.4:p.V289fs

hg38:chr11:47618880 GAC>N

Associated Papers

RARS2 mutations in a sibship with infantile spasms.

Ngoh A et al.

Epilepsia, 2016

27061686 (PubMed )

Supplement: EPI-57-e97-s002.pdf

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