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dbGaP phs000711 Baylor Hopkins Center for Mendelian Genomics (BH CMG) - pht003723.v6.p2

- 12/29/22 - 5 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: pht003723
Principal Investigator: Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA MeSH: Mendelian Conditions,Alstrom Syndrome,Arrhythmogenic Right Ventricular Dysplasia,Syndactyly,Craniofacial Abnormalities,Neurofibromatoses,Ullrich congenital muscular dystrophy,Aortic Aneurysm, Thoracic,Rubinstein-Taybi Syndrome,Acne Inversa,Achondroplasia,Exostoses, Multiple Hereditary,Arthrogryposis, Renal Dysfunction, And Cholestasis,Van Den Ende-Gupta Syndrome,BO Syndrome 3,SMDCRD,Loeys-Dietz Syndrome, Type 1a,Cardiomyopathy, Dilated,OI, Type VI,Sotos Syndrome,Charcot-Marie-Tooth Disease,Microcephaly https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

pht003724.v6.p2

1 Item-grupp 6 Dataelement

pht003722.v6.p2

1 Item-grupp 2 Dataelement

pht003720.v6.p2

1 Item-grupp 2 Dataelement

pht003721.v7.p2

1 Item-grupp 6 Dataelement

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