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
Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.
van der Velden WJC et al.
The Journal of Biological Chemistry, 2022
34801547 (PubMed )
Supplement: mmc1.pdf
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_2
Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.
Lam L et al.
Heartrhythm Case Reports, 2015
28491533 (PubMed )
Supplement: mmc1.docx
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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