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Hum Genome Var. 2017 Mar 16;4:17008. doi: 10.1038/hgv.2017.8. eCollection 2017.

A novel C-terminal truncating .

Human genome variation

Atsushi Hattori, Hiroaki Zukeran, Maki Igarashi, Suzuka Toguchi, Yuji Toubaru, Takanobu Inoue, Yuko Katoh-Fukui, Maki Fukami

Affiliations

  1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
  2. Department of Pediatrics, Naha City Hospital , Naha, Japan.

PMID: 28326187 PMCID: PMC5352671 DOI: 10.1038/hgv.2017.8

Abstract

Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating

Conflict of interest statement

The authors declare no conflict of interest.

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