Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.D1165delFs
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PKD1

NM_001009944.3:p.D1165delFs

Associated Papers

Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.

Clark D et al.

American Journal of Medical Genetics. Part A, 2024

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
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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."