Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.A246S
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HEXA

NM_000520.6:p.A246S

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H et al.

Plos One, 2018

29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table
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