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Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

Reproductive genetic carrier screening (RGCS) has a history spanning more than 50 years, but for most of that time has been limited to screening for one or a few conditions in targeted population groups. The advent of massively parallel sequencing has led to rapid growth in screening for panels of u...

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Detalles Bibliográficos
Autores principales: Kirk, Edwin P., Delatycki, Martin B., Laing, Nigel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539927/
https://www.ncbi.nlm.nih.gov/pubmed/35460079
http://dx.doi.org/10.1002/jimd.12505

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