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Clarification of the clinical significance of an intron variant in a case of Peutz–Jeghers syndrome with abnormal RNA splicing of STK11.

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Title: Clarification of the clinical significance of an intron variant in a case of Peutz–Jeghers syndrome with abnormal RNA splicing of STK11.
Authors: Ishikawa, Aki1 (AUTHOR) a.ishikawa@sapmed.ac.jp, Gotoh, Masahiro2,3 (AUTHOR), Ushiama, Mineko2,3 (AUTHOR), Sakamoto, Hiromi2,3 (AUTHOR), Tanabe, Noriko3 (AUTHOR), Watanabe, Tomoko3 (AUTHOR), Cho, Hourin3 (AUTHOR), Yamada, Masayoshi3,4 (AUTHOR), Sugano, Kokichi3,5 (AUTHOR), Shiraishi, Kouya2 (AUTHOR), Hirata, Makoto3 (AUTHOR), Yoshida, Teruhiko2,3 (AUTHOR), Sakurai, Akihiro1 (AUTHOR)
Source: Molecular Cytogenetics (17558166). 8/20/2025, Vol. 18 Issue 1, p1-8. 8p.
Database: Academic Search Ultimate
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ISSN:17558166
DOI:10.1186/s13039-025-00710-x