Associated Papers
Somatic mutations associate with clonal expansion of CD8+ T cells.
Lundgren S et al.
Science Advances, 2024
38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E et al.
Ophthalmic Genetics, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U et al.
Genes, 2021
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
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