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Hum Genome Var. 2019 May 23;6:25. doi: 10.1038/s41439-019-0056-8. eCollection 2019.

A novel missense .

Human genome variation

Yuichi Ueno, Takashi Enokizono, Hiroko Fukushima, Tatsuyuki Ohto, Kazuo Imagawa, Mai Tanaka, Aiko Sakai, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada

Affiliations

  1. 1Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
  2. 2Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  3. 3Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

PMID: 31149344 PMCID: PMC6531540 DOI: 10.1038/s41439-019-0056-8

Abstract

Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the

Keywords: Autism spectrum disorders; Genetics of the nervous system

Conflict of interest statement

Conflict of interestThe authors declare that they have no conflict of interest.

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