Publications:

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: FBN1: 6818T>C; Met2273Thr; rs754270535

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.

Molecular Genetics & Genomic Medicine

McInerney-Leo, Aideen M AM; West, Jennifer J; Wheeler, Lawrie L; Leo, Paul J PJ; Summers, Kim M KM; Anderson, Lisa L; Brown, Matthew A MA; West, Malcolm M; Duncan, Emma L EL

Publication Date: 2020-03

Variant appearance in text: FBN1: 6818T>C; M2273T; rs754270535

PubMed Link: 31950671

Variant Present in the following documents:

• Main text
• MGG3-8-e1116.pdf

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