Found: 7
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
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- Publication type:
- Article
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
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- Publication type:
- Article
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.
- Published in:
- Briefings in Bioinformatics, 2015, v. 16, n. 2, p. 255, doi. 10.1093/bib/bbu008
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- Publication type:
- Article
A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108878
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- Publication type:
- Article
Functional Consequences of a Novel Variant of PCSK1.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055065
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- Publication type:
- Article
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
- Published in:
- Human Mutation, 2019, v. 40, n. 2, p. 142, doi. 10.1002/humu.23688
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- Publication type:
- Article