Publications:

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: FBN1: C1201R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Orphanet Journal Of Rare Diseases

Campens, Laurence L; Callewaert, Bert B; Muiño Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J

Publication Date: 2015-02-03

Variant appearance in text: FBN1: 3601T>C; Cys1201Arg

PubMed Link: 25644172

Variant Present in the following documents:

• Main text
• 13023_2014_Article_221.pdf

View BVdb publication page