Varaico: Literature-Extracted Genetic Variants

Gene:POF1B
Variant:p.N46insFs
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POF1B

NM_024921.4:p.N46insFs

Associated Papers

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Boonsawat P et al.

Npj Genomic Medicine, 2022

35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
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