Associated Papers
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N et al.
Genome Medicine, 2018
30029678 (PubMed )
Supplement: 13073_2018_566_MOESM2_ESM.xlsx › Sheet1
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
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