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Genome Biology, ISSN 1474-7596, 11/2017, Volume 18, Issue 1, pp. 225 - 12
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2006, Volume 8, Issue 5, pp. 267 - 288
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1593 - 1613
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1835 - 1846
Variant interpretation for the diagnosis of genetic diseases is a complex process. The American College of Medical Genetics and Genomics, with the Association... 
variant | guidelines | ACMG | Decision support system | interpretation | STANDARDS | SEQUENCE VARIANTS | CLASSIFICATION | CLINICAL INTERPRETATION | DATABASE | GENETICS | RECOMMENDATIONS | GENETICS & HEREDITY | CANCER SUSCEPTIBILITY | MUTATIONS | ASSOCIATION | Practice guidelines (Medicine) | Diagnosis | Cardiovascular diseases | Biomedical engineering | Pathogenicity | Automation | Internet | AMP
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1553 - 1568
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2017, Volume 92, Issue 4, pp. 388 - 396
Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK ‐MODY and HNF1A ‐MODY are the prevalent... 
ACMG |