Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.E58Q
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NPHP1

NM_001128178.3:p.E58Q

Associated Papers

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

Leggatt G et al.

Scientific Reports, 2023

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH1T1
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