Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
American Journal Of Human Genetics
Vetrini, Francesco F; D'Alessandro, Lisa C A LC; Akdemir, Zeynep C ZC; Braxton, Alicia A; Azamian, Mahshid S MS; Eldomery, Mohammad K MK; Miller, Kathryn K; Kois, Chelsea C; Sack, Virginia V; Shur, Natasha N; Rijhsinghani, Asha A; Chandarana, Jignesh J; Ding, Yan Y; Holtzman, Judy J; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Eng, Christine M CM; Hanchard, Neil A NA; Harel, Tamar T; Rosenfeld, Jill A JA; Belmont, John W JW; Lupski, James R JR; Yang, Yaping Y
Publication Date: 2016-10-06
Variant appearance in text: PKD1: 9043T>A; Cys3015Ser