Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.N278S
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ZNF408

NM_024741.3:p.N278S

Associated Papers

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

Bertrand RE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33077892 (PubMed )
Supplement: NIHMS1645491-supplement-Supplemental_Tables.xlsx › Table_S4

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 › HL5
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