Found: 12
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ELP2 is a novel gene implicated in neurodevelopmental disabilities.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1391, doi. 10.1002/ajmg.a.36935
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- Publication type:
- Article
The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097408
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- Publication type:
- Article
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 61, doi. 10.1007/s00439-010-0825-4
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- Publication type:
- Article
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49224-8
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- Publication type:
- Article
Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 3, p. 840, doi. 10.1093/nar/gkj489
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- Publication type:
- Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170843
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- Publication type:
- Article
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 10, p. e59, doi. 10.1093/nar/gkz164
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- Publication type:
- Article
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/9537832
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- Publication type:
- Article
The Challenge of Genomic Medicine.
- Published in:
- 2014
- By:
- Publication type:
- Other
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 852, doi. 10.1002/humu.20735
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- Publication type:
- Article
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
- Published in:
- 2018
- By:
- Publication type:
- journal article