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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BTD

Variant:p.V422insFs

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BTD

NM_001370658.1:p.V422insFs

hg38:chr3:15645181 T>TC

Associated Papers

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.

Kannan B et al.

Journal of Pediatric Genetics, 2023

36684547 (PubMed )

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