{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001004157"],"sample_count":["10"],"description":["EGA dataset EGAD00001004157"],"repository":["EGA"],"title":["WES analysis in identifying additive genetic factors that may contribute to the occurrence of moyamoya in neurofibromatosis type 1"],"additional_accession":[]},"is_claimable":false,"name":"d98eab1b-f81e-44e2-ad46-a775e9299875 - samples","description":"Five subjects from pedigree with co-occurrence  of neurofibromatosis type 1 and moyamoya were sequenced in duplicate (0 and1).\n\nKinship and phenotype:\nNF025, NF026 and NF027 were sibling all affected by neurofibromatosis type 1. NF026 also presented moyamoya.\nNF0262 and NF0263 were sibling both affected by neurofibromatosis type 1. NF0262 also presented moyamoya.\nNF026 and NF0262 were first cousins.","dates":{"updated":"2020-07-16 15:33:08"},"accession":"EGAD00001004157","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000936","EGAS00001003053"]}}