Associated Papers
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Fiorica PN et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
39992227 (PubMed )
Supplement: ccr-24-2785_supplementary_data_1_suppds1.xlsx › Supplemental_Table_3
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Aldahmesh MA et al.
Human Molecular Genetics, 2014
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Dollfus H et al.
Medecine Sciences : M/s, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Stoetzel C et al.
Nature Genetics, 2006
Select a paper to view details