Varaico: Literature-Extracted Genetic Variants

Gene:NPIPB12
Variant:p.V270L
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NPIPB12

NM_001395931.1:p.V270L

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
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