Publications:

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Bmc Medical Genomics

Wooderchak-Donahue, Whitney L WL; O'Fallon, Brendan B; Furtado, Larissa V LV; Durtschi, Jacob D JD; Plant, Parker P; Ridge, Perry G PG; Rope, Alan F AF; Yetman, Angela T AT; Bayrak-Toydemir, Pinar P

Publication Date: 2012-11-14

Variant appearance in text: FBN1: M717X

PubMed Link: 23148498

Variant Present in the following documents:

• Main text
• 1755-8794-5-50.pdf

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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics

Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U

Publication Date: 2002-08

Variant appearance in text: FBN1: M717X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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