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Springer Nature [academic journals on nature.com], Journal of Human Genetics, 7(67), p. 387-392, 2022

DOI: 10.1038/s10038-022-01016-1

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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

Journal article published in 2022 by Takuya Hiraide ORCID, Kenji Shimizu ORCID, Sachiko Miyamoto ORCID, Kazushi Aoto, Mitsuko Nakashima ORCID, Tomomi Yamaguchi, Tomoki Kosho ORCID, Tsutomu Ogata ORCID, Hirotomo Saitsu ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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