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Mendelian genes

URL:  http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ARHGEF12 Gene:  ARHGEF12 ...

LSDB Record - Administrator - 4 Feb 2012 - 05:16 - 1 comment - 0 attachments - 0 groups

Exchange format for LSDBs

Hi All We have been discussing with Ivo about the data format and getting into following proposal: - Use xml-elemnts and not attributes, due to extendability etc. - Add separate elements for variation aliases and sequence changes. The latter one ...

Post - Juha Muilu - 25 Nov 2009 - 09:35 - 25 comments - 0 attachments - 1 group

X-chromosome gene database

URL:  http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FOXR2 Gene:  FOXR2 ...

LSDB Record - Administrator - 31 Jan 2012 - 17:50 - 1 comment - 0 attachments - 0 groups

LSDB minimal requirements (D3.4), compared to LOVD and the LSDB XML format

See the current XML format: http://www.gen2phen.org/wiki/lsdb-xml-data-format and workshop notes: http://www.gen2phen.org/post/lsdb-minimal-requirements-johan-discussion-... See also other LSDB/G2P check list This list is a ma ...

Post - Ivo F.A.C. Fokkema - 4 Feb 2011 - 12:37 - 16 comments - 0 attachments - 1 group

Predicting the effects of frameshifting indels

DOI:  10.1186/gb-2012-13-2-r9 URL:  http://geno ...

News Article - Administrator - 10 Feb 2012 - 13:19 - 0 comments - 0 groups

Functional genomics: The changes that count

DOI:  10.1038/482257a URL:  http://feeds.nature ...

News Article - Administrator - 10 Feb 2012 - 13:16 - 0 comments - 0 groups

International COL7A1 Mutation Database of dystrophic epidermolysis bullosa (DEB) patients (collagen)

URL:  http://www.col7a1.org Gene:  COL7A1 Advanced:  ...

LSDB Record - Administrator - 9 Feb 2012 - 11:30 - 0 comments - 0 attachments - 0 groups

Mendelian genes

URL:  http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=A2M Gene:  A2M ...

LSDB Record - Administrator - 9 Feb 2012 - 10:55 - 0 comments - 0 attachments - 0 groups

Mendelian genes

URL:  http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=GDF5 Gene:  GDF5 ...

LSDB Record - Administrator - 8 Feb 2012 - 18:03 - 0 comments - 0 attachments - 0 groups

Human genetic susceptibility to infectious disease

DOI:  10.1038/nrg3114 URL:  http://feeds.nature ...

News Article - Administrator - 8 Feb 2012 - 14:49 - 0 comments - 0 groups

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