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Mur, Pilar et al. Scientific Reports.

Mur, Pilar et al. Scientific Reports. 2016 Feb

Pilar Mur and colleagues report a study on the coding region and exon-intron boundaries of UNC5C gene in 544 familial  colorectal cancer (CRC) or polyposis patients, using and massively parallel sequencing. They identified 8 novel or rare variants, all missense, in eight families but they showed that 7 of the 8 identified variants were not are not consistent with a causal effect (including c.1882_1883delinsAA (p.A628K)) and one variant, c.2210G>A (p.S737N), remained unclassified.

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"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."


Wellington Regional Genetics Laboratory, Wellington, New Zealand



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