Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer
Sophie Allen, Charlie F Rowlands, Samantha Butler…·Catarina Olimpio
The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.
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