Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.W79*
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FUCA1

NM_000147.5:p.W79*

Associated Papers

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

Kılıç M et al.

The Turkish Journal of Pediatrics, 2025

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