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Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

AIMS: Maturity‐onset diabetes of the young (MODY) is one of the rare monogenic forms of diabetes. To date, about 12 genes in the scientific literature are closely related to the occurrence of the disease phenotype. However, there is still a high prevalence of undiagnosed cases of so-called MODY-X wh...

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Detalles Bibliográficos
Autores principales: Płoszaj, Tomasz, Antosik, Karolina, Jakiel, Paulina, Zmysłowska, Agnieszka, Borowiec, Maciej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8325655/
https://www.ncbi.nlm.nih.gov/pubmed/34019234
http://dx.doi.org/10.1007/s12020-021-02753-7