Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.V6V
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ECHS1

NM_004092.4:p.V6V

Associated Papers

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Yau WY et al.

Brain Communications, 2025

40488180 (PubMed )
Supplement: fcaf188_supplementary_data.pdf
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