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Takeshita Y, Ohto T, Enokizono T, et al. Novel . Hum Genome Var. 2020;7:9doi: 10.1038/s41439-020-0094-2.
Takeshita, Y., Ohto, T., Enokizono, T., Tanaka, M., Suzuki, H., Fukushima, H., Uehara, T., Takenouchi, T., Kosaki, K., & Takada, H. (2020). Novel . Human genome variation, 79. https://doi.org/10.1038/s41439-020-0094-2
Takeshita, Yohei, et al. "Novel ." Human genome variation vol. 7 (2020): 9. doi: https://doi.org/10.1038/s41439-020-0094-2
Takeshita Y, Ohto T, Enokizono T, Tanaka M, Suzuki H, Fukushima H, Uehara T, Takenouchi T, Kosaki K, Takada H. Novel . Hum Genome Var. 2020 Mar 31;7:9. doi: 10.1038/s41439-020-0094-2. eCollection 2020. PMID: 32257294; PMCID: PMC7109071.
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Hum Genome Var. 2020 Mar 31;7:9. doi: 10.1038/s41439-020-0094-2. eCollection 2020.

Novel .

Human genome variation

Yohei Takeshita, Tatsuyuki Ohto, Takashi Enokizono, Mai Tanaka, Hisato Suzuki, Hiroko Fukushima, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada

Affiliations

  1. Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sakai-machi, Japan.
  2. 2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
  3. 3Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  4. 4Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

PMID: 32257294 PMCID: PMC7109071 DOI: 10.1038/s41439-020-0094-2

Abstract

We report a 7-year-old boy with infantile spasms caused by a novel mutation in the

© The Author(s) 2020.

Keywords: Development; Disease genetics

Conflict of interest statement

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

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