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Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2018, Volume 3, Issue 1, pp. 21 - 10
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these... 
DIAGNOSIS | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MUTATIONS | MAP3K7 | FACEBASE CONSORTIUM | HUMAN PHENOTYPE ONTOLOGY | Crowdsourcing | Interdisciplinary aspects
Journal Article
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