Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.P186fs
Back to variants list

NPHP1

NM_001128178.3:p.P186fs

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.

Wang J et al.

American Journal of Ophthalmology, 2023

Utility of Genomic Testing after Renal Biopsy.

Murray SL et al.

American Journal of Nephrology, 2020

Monogenic causes of chronic kidney disease in adults.

Connaughton DM et al.

Kidney International, 2019

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J et al.

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."