Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease‐associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (...

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Publicado en:Hum Mutat
Autores principales: Astuti, Dewi, Sabir, Ataf, Fulton, Piers, Zatyka, Malgorzata, Williams, Denise, Hardy, Carol, Milan, Gabriella, Favaretto, Francesca, Yu‐Wai‐Man, Patrick, Rohayem, Julia, López de Heredia, Miguel, Hershey, Tamara, Tranebjaerg, Lisbeth, Chen, Jian‐Hua, Chaussenot, Annabel, Nunes, Virginia, Marshall, Bess, McAfferty, Susan, Tillmann, Vallo, Maffei, Pietro, Paquis‐Flucklinger, Veronique, Geberhiwot, Tarekign, Mlynarski, Wojciech, Parkinson, Kay, Picard, Virginie, Bueno, Gema Esteban, Dias, Renuka, Arnold, Amy, Richens, Caitlin, Paisey, Richard, Urano, Fumihiko, Semple, Robert, Sinnott, Richard, Barrett, Timothy G.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
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Databases
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5535005/
https://ncbi.nlm.nih.gov/pubmed/28432734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23233
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