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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: Mar 07, 2021. (Total: 39192 Documents since 2012)
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Records 1-7 (of 7 Record(s))
Query Trace: Marfan syndrome[original query]>>Evidence Synthesis[Product Type]
Publication
CLINGEN Actionability Report for Marfan Syndrome - FBN1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos Syndrome Type IV - COL3A1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
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