Associated Papers
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand RE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33077892 (PubMed )
Supplement: NIHMS1645491-supplement-Supplemental_Tables.xlsx › Table_S4
Hepatorenal fibrocystic diseases in children.
Park E et al.
Pediatric Nephrology (berlin, Germany), 2016
NPHP4 variants are associated with pleiotropic heart malformations.
French VM et al.
Circulation Research, 2012
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