Associated Papers
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Zastrow DB et al.
Cold Spring Harbor Molecular Case Studies, 2017
28050602 (PubMed )
Supplement: supp_mcs.a001388_TableS1.xls › Clinical_Clinvar
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