Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1B2
Variant:p.R381delFs
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ATP6V1B2

NM_001693.4:p.R381delFs

Associated Papers

Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.

Klangjorhor J et al.

International Journal of Genomics, 2025

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