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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Vydáno v:Hum Mutat
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2017
Témata:
Databases
On-line přístup: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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