Publications:

BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.

Genes

Song, Jie J; Hinderhofer, Katrin K; Kaufmann, Lilian T LT; Benjamin, Nicola N; Fischer, Christine C; Grünig, Ekkehard E; Eichstaedt, Christina A CA

Publication Date: 2020-10-06

Variant appearance in text: BMPR2: -669G>A; rs115604088

PubMed Link: 33036198

Variant Present in the following documents:

• Main text
• genes-11-01168.pdf

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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies

Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C

Publication Date: 2020-06

Variant appearance in text: BMPR2: -669G>A; rs115604088

PubMed Link: 32358097

Variant Present in the following documents:

• supp_mcs.a003970_Supplemental_Table.xlsx, sheet 4

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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: BMPR2: -669G>A; rs115604088

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: BMPR2: -669G>A; rs115604088

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs115604088

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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