Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.Q85_V86Splc
Back to variants list

KDSR

NM_002035.4:p.Q85_V86Splc

Associated Papers

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

Bariana TK et al.

Haematologica, 2019

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.

Boyden LM et al.

American Journal of Human Genetics, 2017

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."