Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.G675S
Back to variants list

ANKRD36C

NM_001393982.1:p.G675S

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 › HL4

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."