@misc{indiciaeb422148b15e4, title = {Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.}, author = {Sophie Allen and Charlie F Rowlands and Samantha Butler and Miranda Durkie and Carrie Horton and Tina Pesaran and Marcy Richardson and Rachel Robinson and Alice Garrett and George J Burghel and Alison Callaway and Joanne Field and Bethan Frugtniet and Sheila Palmer-Smith and Jonathan Grant and Judith Pagan and Trudi McDevitt and Katie Snape and Avgi Andreou and Eamonn R Maher and Helen Hanson and Terri McVeigh and Clare Turnbull and CanVIG-UK}, year = {2025}, doi = {10.1016/j.gim.2025.101565}, url = {https://pubmed.ncbi.nlm.nih.gov/40916913/}, note = {Source identifier: 40916913} }