Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.L553R
Back to variants list

KCNH2

NM_000238.4:p.L553R

Associated Papers

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

Tsurusaki Y et al.

Clinical Genetics, 2014

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."