PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
rs121908557 in
SCN4A;LOC105371858 gene and
Ventricular Septal Defects
PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].