Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-11
Variant:p.C125Y
Back to variants list

KRTAP4-11

NM_033059.4:p.C125Y

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

Bayrakli F et al.

Bmc Genetics, 2013

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."