https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:19832 Wed 27 Jul 2022 13:50:36 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28194 Wed 11 Apr 2018 10:29:55 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46009 Wed 10 Apr 2024 15:33:13 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8527 Sat 24 Mar 2018 08:42:30 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8177 Sat 24 Mar 2018 08:36:15 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10084 G/p.Tyr179Cys and c.1187G>A/p.Gly396Asp (previously c.494A>G/p.Tyr165Cys and c.1145G>A/p.Gly382Asp). However, for a substantial fraction of the detected variants, the clinical significance remains uncertain, compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants, respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.]]> Sat 24 Mar 2018 08:12:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:295 Sat 24 Mar 2018 07:43:42 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:41233 Fri 29 Jul 2022 14:02:23 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:43405 Fri 16 Sep 2022 10:26:37 AEST ]]>