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Somatic mosaicism for a lethal TRPV4 mutation results in no..:

Weinstein, Michael M. ; Kang, Taekyu ; Lachman, Ralph S....
American Journal of Medical Genetics Part A.  170 (2016)  12 - p. 3298-3302 , 2016
Link: https://doi.org/10.1002/ajmg.a.37942