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GENETICS IN MEDICINE, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose: Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
NOONAN SYNDROME | ClinGen | RASopathy | Noonan | variant interpretation | GUIDELINES | GENETICS & HEREDITY | LABORATORIES | MUTATIONS | Ras/MAPK | Genetic Variation | United States | Gene Frequency | Humans | High-Throughput Nucleotide Sequencing | Software | Mutation | Genomics - methods | Genetic Testing - methods | Genome, Human - genetics | Information Dissemination | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2016, Volume 25, Issue 2, pp. R123 - R132
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2018, Volume 177, Issue 4, pp. 434 - 446
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 03/2018, Volume 11, Issue 3
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in... 
Mouse model | RAS/MAPK pathway | Pulmonary artery stenosis | MEK1 Y130C mutation | Cardio-facio-cutaneous syndrome | Neurological defects | Index Medicus | MAPK pathway | RAS
Journal Article
Journal Article
Journal Article
Science, ISSN 0036-8075, 3/2006, Volume 311, Issue 5765, pp. 1287 - 1290
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
PurposeStandardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
ClinGen | RASopathy | Ras/MAPK | Noonan | variant interpretation | Genomics | Genes | MAPK | Ras
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 182 - 187
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 09/2015, Volume 8, Issue 9, p. 1167
Journal Article