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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETFA

Variant:p.Q265_T266del2

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ETFA

NM_000126.4:p.Q265_T266del2

hg38:chr15:76274429 CCGTCTG>C

Associated Papers

Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.

Schee JP et al.

Journal of Clinical Neurology (seoul, Korea), 2024

38951975 (PubMed )

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