Varaico: Literature-Extracted Genetic Variants

Gene:FHIP2B
Variant:p.P132S
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FHIP2B

NM_022749.7:p.P132S

Associated Papers

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

Bertoli-Avella A et al.

Journal of Medical Genetics, 2022

34952832 (PubMed )
Supplement: jmedgenet-2021-108150supp002.pdf
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