Associated Papers
Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.
Abner E et al.
Nature Communications, 2025
41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
Fahim AT et al.
Ophthalmology. Retina, 2020
Rs3213758 in the RPGRIP1L Gene Associated with Susceptibility to Segmental Vitiligo in a Chinese Han Population.
Hu M et al.
Chinese Medical Journal, 2018
Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
Cheong KA et al.
Journal of Korean Medical Science, 2013
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F et al.
Clinical Genetics, 2008
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