Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.R1300*
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ZNF462

NM_021224.6:p.R1300*

Associated Papers

A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

González-Tarancón R et al.

Acta Clinica Belgica, 2022

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

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

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
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