Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
American Journal Of Human Genetics
Halim, Danny D; Brosens, Erwin E; Muller, Françoise F; Wangler, Michael F MF; Beaudet, Arthur L AL; Lupski, James R JR; Akdemir, Zeynep H Coban ZHC; Doukas, Michael M; Stoop, Hans J HJ; de Graaf, Bianca M BM; Brouwer, Rutger W W RWW; van Ijcken, Wilfred F J WFJ; Oury, Jean-François JF; Rosenblatt, Jonathan J; Burns, Alan J AJ; Tibboel, Dick D; Hofstra, Robert M W RMW; Alves, Maria M MM
Publication Date: 2017-07-06
Variant appearance in text: NSF: 2209G>A; Gly737Arg