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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2010, Volume 107, Issue 45, pp. 19573 - 19578
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1517 - 1524
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence... 
ACMG/AMP | PVS1 | loss of function | ClinGen | variant interpretation | DECAY | GUIDELINES | HUMANS | TRANSLATION INITIATION | MAMMALIAN-CELLS | PROTEIN-SYNTHESIS | CODONS | GENETICS & HEREDITY | FRAMEWORK | SITES | LABORATORIES | Decision-making | Medical colleges | Research institutes | Analysis | Genomics | AMP | Decision making | ACMG | Loss of function (LoF) | Variant interpretation
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2017, Volume 69, Issue 16, pp. 2054 - 2063
Journal Article
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2010, Volume 1802, Issue 1, pp. 29 - 44
Journal Article
Developmental Biology, ISSN 0012-1606, 02/2020, Volume 458, Issue 1, pp. 98 - 105
Attempts to constitutively knockout HTT in rodents resulted in embryonic lethality, curtailing efforts to study HTT function later in development. Here we show... 
Huntingtin | Loss-of-function | Zebrafish | INACTIVATION | GENE HOMOLOG | LETHALITY | DEVELOPMENTAL BIOLOGY
Journal Article
Brain, ISSN 0006-8950, 09/2017, Volume 140, Issue 9, pp. 2337 - 2354
Journal Article