Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.S271fs
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KRT83

NM_002282.3:p.S271fs

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S9

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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