Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD2
Variant:p.N316K
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KBTBD2

NM_015483.3:p.N316K

Associated Papers

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Chundru VK et al.

Nature Genetics, 2024

39313616 (PubMed )
Supplement: 41588_2024_1910_MOESM4_ESM.xlsx › Supp_Table_6
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