Associated Papers
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.
Westin IM et al.
Scientific Reports, 2021
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Van de Sompele S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30377383 (PubMed )
Supplement: 41436_2018_345_MOESM1_ESM.docx
Select a paper to view details