Publications:

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

European Heart Journal. Case Reports

Suliman, Asem A; Yan, Weiang W; Yamashita, Michael H MH; Krentz, Anthony D AD; Mhanni, Aizeddin A; Garber, Philip J PJ

Publication Date: 2022-03

Variant appearance in text: FBN1: Cys2339Tyr

PubMed Link: 35372756

Variant Present in the following documents:

• Main text
• ytac063.pdf

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: FBN1: 7016G>A; Cys2339Tyr

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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