Varaico: Literature-Extracted Genetic Variants

Gene:DNMBP
Variant:p.N1483S
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DNMBP

NM_015221.4:p.N1483S

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D et al.

Bmc Medical Genetics, 2018

30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 949_variants
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