Associated Papers
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
36909829 (PubMed )
Supplement: pgad043_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2022-00861-s02.xlsx › Table
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM et al.
Human Genetics, 2022
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Peter VG et al.
Human Mutation, 2021
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