Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.E66_D67Splc
Back to variants list

KDSR

NM_002035.4:p.E66_D67Splc

Associated Papers

Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia.

Wu L et al.

Frontiers in Pediatrics, 2022

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."