Associated Papers
Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.
Manav Yiğit Z et al.
Ophthalmic Genetics, 2025
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
34448047 (PubMed )
Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7
Select a paper to view details