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Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search

Hideki Mutai; Fuyuki Miya; Kiyomitsu Nara; Nobuko Yamamoto; Satomi Inoue; Haruka Murakami; Kazunori Namba; Hiroshi Shitara; Shujiro Minami; Atsuko Nakano; Yukiko Arimoto; Noriko Morimoto; Taiji Kawasaki; Koichiro Wasano; Masato Fujioka; Yasue Uchida; Kimitaka Kaga; Kazuki Yamazawa; Yoshiaki Kikkawa; Kenjiro Kosaki; Tatsuhiko Tsunoda; Tatsuo Matsunaga
Human Genetics · Vol. 144, Issue 1 · pp. 93-112 · 2025

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2025-01-01
Publication Year2025
Volume144
Issue1
Pages93-112
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-024-02719-5

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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