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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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Detalhes bibliográficos
Publicado no:Endocrine
Main Authors: Płoszaj, Tomasz, Antosik, Karolina, Jakiel, Paulina, Zmysłowska, Agnieszka, Borowiec, Maciej
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8325655/
https://ncbi.nlm.nih.gov/pubmed/34019234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12020-021-02753-7
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