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
37296294 (PubMed )
Supplement: 41598_2023_32169_MOESM1_ESM.pdf
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
Ellison AR et al.
Human Molecular Genetics, 2001
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