Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.P390L
Back to variants list

WDR19

NM_025132.4:p.P390L

Associated Papers

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.

Shak C et al.

Journal of Cell Science, 2023

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Schmidts M et al.

American Journal of Human 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."