Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.W265C
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FUCA1

NM_000147.5:p.W265C

Associated Papers

Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis.

Bhattacherjee A et al.

The Indian Journal of Medical Research, 2023

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