Varaico: Literature-Extracted Genetic Variants

Gene:KRT6C
Variant:p.N21S
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KRT6C

NM_173086.5:p.N21S

Associated Papers

A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.

Zhu R et al.

Molecular Genetics & Genomic Medicine, 2020

32783365 (PubMed )
Supplement: MGG3-8-e1441-s004.xlsx › Table_S2

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

Recurrent PDGFRB mutations in unicentric Castleman disease.

Li Z et al.

Leukemia, 2019

30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2
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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."