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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Heart, Lung, Blood and Sleep Disorders
Last data update: May 03, 2024
. (Total: 63769 Documents since 2012)
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Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant.
Schneeweiss Michelle Robyn et al. BMJ case reports 2023 15(12)
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Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome.
Giudicessi John R et al. Heart rhythm O2 2021 2(5) 431-438
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A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub Sherene et al. Journal of vascular surgery 2020 71(1) 149-157
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Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
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Mitral valve prolapse, a familial condition worth screening for?
Regieli Jakub J et al. European journal of preventive cardiology 2019 Dec 2047487319893368
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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 Ehlers-Danlos syndrome, classic type - COL5A1, COL5A2
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
Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum.
Giudicessi John R et al. International journal of cardiology 2018 May
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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