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
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J et al.
Npj Genomic Medicine, 2022
35672333 (PubMed )
Supplement: 41525_2022_306_MOESM1_ESM.pdf
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C et al.
Amino Acids, 2015
26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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