@article{mougel:hal-04302654,
TITLE = {Update of the UMD-VHL database: classification of 164 challenging variants based on genotype--phenotype correlation among 605 entries},
AUTHOR = {Mougel, Gregory and Mohamed, Amira and Burnichon, Nelly and Giraud, Sophie and Pigny, Pascal and Bressac-de Paillerets, Brigitte and Mirebeau-Prunier, Delphine and Buffet, Alexandre and Savagner, Fr{\'e}d{\'e}rique and Romanet, Pauline and Arlot-Bonnemains, Yannick and Gardie, Betty and Gimenez-Roqueplo, Anne-Paule and Beroud, Christophe and Richard, Stephane and Barlier, Anne},
URL = {https://hal.science/hal-04302654},
JOURNAL = {Journal of Medical Genetics},
PUBLISHER = {BMJ Publishing Group},
SERIES = {J Med Chem},
YEAR = {2023},
MONTH = Nov, DOI = {10.1136/jmg-2023-109550},
KEYWORDS = {von Hippel-Lindau (VHL) ; hereditary tumour syndrome ; VHL variants ; diagnosis},
PDF = {https://hal.science/hal-04302654/file/2023-Genetique.pdf},
HAL_ID = {hal-04302654},
HAL_VERSION = {v1},
}