Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

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Bibliographic Details
Published inHuman genome variation Vol. 7; p. 17
Main Authors Abe, Yuki, Yamamoto, Toshiyuki, Izumita, Yukie, Tsukano, Shinya
Format Journal Article
LanguageEnglish
Published 01.12.2020
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content type line 23
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-020-0104-4