Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.
Mauro-Herrera M et al.
Genes, 2021
Review: Intraflagellar transport proteins in the retina.
Kannabiran C
Molecular Vision, 2020
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
Johnston JJ et al.
Cold Spring Harbor Molecular Case Studies, 2017
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Soens ZT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
Select a paper to view details