Search: News Article, Human Mutation
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- VAR-MD: A tool to analyze whole exome/genome variants in small human pedigrees with Mendelian inheritance
DOI: http://dx.doi.org/10.1002%2Fhumu.22034 URL: ...
News Article - Administrator - 3 Feb 2012 - 10:11 - 0 comments - 0 groups
- Protein-protein interaction sites are hot spots for disease-associated non-synonymous SNPs
DOI: http://dx.doi.org/10.1002%2Fhumu.21656 URL: ...
News Article - Administrator - 11 Nov 2011 - 10:32 - 0 comments - 0 groups
- Guidelines for establishing locus specific databases
DOI: http://dx.doi.org/10.1002%2Fhumu.21646 URL: ...
News Article - Administrator - 4 Nov 2011 - 16:05 - 0 comments - 0 groups
- Using systematic nomenclature for CFTR variants: Improvement needed
DOI: http://dx.doi.org/10.1002%2Fhumu.21618 URL: ...
News Article - Administrator - 31 Oct 2011 - 10:53 - 0 comments - 0 groups
- An informatics project and online ‘knowledge centre’ supporting modern genotype-to-phenotype research
DOI: http://dx.doi.org/10.1002%2Fhumu.21469 URL: ...
News Article - Administrator - 24 Feb 2011 - 17:54 - 1 comment - 0 groups
- WAVe: web analysis of the variome
DOI: http://dx.doi.org/10.1002%2Fhumu.21499 URL: ...
News Article - Administrator - 14 Mar 2011 - 10:40 - 0 comments - 0 groups
- LOVD v.2.0: the next generation in gene variant databases
DOI: http://dx.doi.org/10.1002%2Fhumu.21438 URL: ...
News Article - Administrator - 17 Feb 2011 - 22:32 - 0 comments - 0 groups
- An updated and upgraded L1CAM mutation database
DOI: 10.1002/humu.21172 URL: http://dx.doi.or ...
News Article - Administrator - 7 Dec 2009 - 10:26 - 0 comments - 0 groups
- ssSNPTarget: genome-wide splice-site single nucleotide polymorphism database
DOI: http://dx.doi.org/10.1002%2Fhumu.21128 URL: ...
News Article - Administrator - 18 Sep 2009 - 13:23 - 0 comments - 0 groups
- The SCN1A variant database: a novel research and diagnostic tool
DOI: http://dx.doi.org/10.1002%2Fhumu.21083 URL: ...
News Article - Administrator - 9 Jul 2009 - 17:52 - 0 comments - 0 groups