Publications:

Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

Clinical Case Reports

Islam, Yasmin Florence Khodeja YF; Williams, Charles A CA; Schoch, Jennifer Jane JJ; Andrews, Israel David ID

Publication Date: 2017-01

Variant appearance in text: FBN1: 6391T>C; Cys2131Arg

PubMed Link: 28096993

Variant Present in the following documents:

• Main text
• CCR3-5-66.pdf

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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: C2131R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page