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Items: 11


The V81M variant of tyrosine hydroxylase is associated with more severe freezing of gait in Parkinson's disease.

Tekin I, Carkaci-Salli N, Lewis MM, Mailman RB, Huang X, Vrana KE.

Parkinsonism Relat Disord. 2016 Feb;23:86-90. doi: 10.1016/j.parkreldis.2015.12.015.


Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice.

Fraser HI, Howlett S, Clark J, Rainbow DB, Stanford SM, Wu DJ, Hsieh YW, Maine CJ, Christensen M, Kuchroo V, Sherman LA, Podolin PL, Todd JA, Steward CA, Peterson LB, Bottini N, Wicker LS.

J Immunol. 2015 Nov 15;195(10):4841-52. doi: 10.4049/jimmunol.1402654.


The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.

Kozyrev SV, Bernal-Quirós M, Alarcón-Riquelme ME, Castillejo-López C.

Genes Immun. 2012 Feb;13(2):129-38. doi: 10.1038/gene.2011.62.


An SF1 affinity model to identify branch point sequences in human introns.

Pastuszak AW, Joachimiak MP, Blanchette M, Rio DC, Brenner SE, Frankel AD.

Nucleic Acids Res. 2011 Mar;39(6):2344-56. doi: 10.1093/nar/gkq1046.


Human genetic variation recognizes functional elements in noncoding sequence.

Lomelin D, Jorgenson E, Risch N.

Genome Res. 2010 Mar;20(3):311-9. doi: 10.1101/gr.094151.109.


Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C.

Nucleic Acids Res. 2009 May;37(9):e67. doi: 10.1093/nar/gkp215.


Human branch point consensus sequence is yUnAy.

Gao K, Masuda A, Matsuura T, Ohno K.

Nucleic Acids Res. 2008 Apr;36(7):2257-67. doi: 10.1093/nar/gkn073.


Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J, Christensen MB, Vorechovský I.

Nucleic Acids Res. 2005 Sep 1;33(15):4882-98.

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