Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleRecurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.AuthorsUehara, Tomoko; Sanuki, Rikako; Ogura, Yurie; Yokoyama, Atsushi; Yoshida, Takeshi; Futagawa, Hiroshi; Yoshihashi, Hiroshi; Yamada, Mamiko; Suzuki, Hisato; Takenouchi, Toshiki; Matsubara, Kohei; Hirata, Hiromi; Kosaki, Kenjiro; Takano‐Shimizu, ToshiyukiPublicationAmerican Journal of Medical Genetics. Part A, 2021, Vol 185, Issue 7, p2084ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.62226