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A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
Autores principales: | Tajima, Toshihiro, Oguma, Makiko |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981044/ https://www.ncbi.nlm.nih.gov/pubmed/35431442 http://dx.doi.org/10.1297/cpe.2021-0071 |
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