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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFSD8

Variant:p.A117V

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MFSD8

NM_001371596.2:p.A117V

hg38:chr4:127943841 G>A

Associated Papers

Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Rossi M et al.

Movement Disorders Clinical Practice, 2021

33426154 (PubMed )

Supplement: supplement_1.docx

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