Suggestions

Du même auteur

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Archive ouverte | Lebeault, Maylis | CCSD

International audience. Background: The presence of single nucleotide polymorphisms (SNPs) in the REarranged during Transfection (RET) gene has been investigated with regard to their potential role in the developmen...

PFMG2025–integrating genomic medicine into the national healthcare system in France

Archive ouverte | Abadie, Caroline | CCSD

International audience. Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patien...

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries. Mise à jour de la base de données UMD-VHL : classification de 164 variants difficiles sur la base de la corrélation génotype-phénotype parmi 605 entrées. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries: Cancer genetics

Archive ouverte | Mougel, Gregory | CCSD

International audience. Background The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in VHL tumour suppressor gene. The identification of VHL variants requires accurate...

Chargement des enrichissements...