Found: 5
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A Case of IL-7R Deficiency Caused by a Novel synonymous Mutation and Implications for Mutation screening in sCID Diagnosis.
- Published in:
- Frontiers in Immunology, 2016, v. 7, p. 1, doi. 10.3389/fimmu.2016.00443
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- Publication type:
- Article
WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
- Published in:
- Human Mutation, 2016, v. 37, n. 12, p. 1308, doi. 10.1002/humu.23119
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- Publication type:
- Article
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
- Published in:
- Human Mutation, 2016, v. 37, n. 5, p. 439, doi. 10.1002/humu.22965
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- Publication type:
- Article
Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1532, doi. 10.1002/humu.22710
- By:
- Publication type:
- Article
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
- Published in:
- 2016
- By:
- Publication type:
- Letter