PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
rs762292772 in
SHANK3 gene and
Atrial Septal Defects
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
rs369634007 in
TMEM87B gene and
Atrial Septal Defects
PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.