A pathogenic missense variant, c.2149G>A (p.Gly717Arg), in CDK13 in a female patient with CDK13-related disorder: A case report and literature review of 112 cases
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Published:2024-09
Issue:3
Volume:2
Page:100023
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ISSN:2950-2217
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Container-title:Brain and Development Case Reports
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language:en
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Short-container-title:Brain and Development Case Reports
Author:
Morooka Naoki,
Kido JunORCID,
Ueno Hiroe,
Misumi Yohei,
Sugawara Keishin,
Kameyama Shinichi,
Fukuda Hiromi,
Mizuguchi Takeshi,
Matsumoto Naomichi,
Ueda Mitsuharu,
Nakamura Kimitoshi