Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.K185delFs
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NPHP1

NM_001128178.3:p.K185delFs

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s006.xlsx › Sheet_1

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

A pragmatic approach to selective genetic testing in kidney transplant candidates.

Nissaisorakarn P et al.

Frontiers in Transplantation, 2023

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M et al.

American Journal of Human Genetics, 2015

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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."