Condition: AORTIC ANEURYSM, FAMILIAL THORACIC 7
rs1382893400
in
MYLK
gene and
AORTIC ANEURYSM, FAMILIAL THORACIC 7
PMID 21055718
2010 Mutations in myosin light chain kinase cause familial aortic dissections.
PMID 28401540
2017 Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.
PMID 24882528
2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
PMID 25356965
2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 23788249
2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
rs387906781
in
MYLK;MYLK-AS1
gene and
AORTIC ANEURYSM, FAMILIAL THORACIC 7
PMID 21055718
2010 Mutations in myosin light chain kinase cause familial aortic dissections.