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Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which have been widely adopted into clinical practice. Despite these standardized efforts,...

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Detalles Bibliográficos
Autores principales:	Kim, Young-Eun, Ki, Chang-Seok, Jang, Mi-Ae
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2019
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502951/ https://www.ncbi.nlm.nih.gov/pubmed/31037860 http://dx.doi.org/10.3343/alm.2019.39.5.421

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