Publications:

A GDF2 missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report.

The Journal Of International Medical Research

Ma, Le L; Peng, Xi X; Gong, Qiang Q

Publication Date: 2023-03

Variant appearance in text: GDF2: 352A>T

PubMed Link: 36891821

Variant Present in the following documents:

• Main text
• 10.1177_03000605231159545.pdf

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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

American Journal Of Respiratory And Critical Care Medicine

Hodgson, Joshua J; Swietlik, Emilia M EM; Salmon, Richard M RM; Hadinnapola, Charaka C; Nikolic, Ivana I; Wharton, John J; Guo, Jingxu J; Liley, James J; Haimel, Matthias M; Bleda, Marta M; Southgate, Laura L; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; Lawrie, Allan A; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Olschewski, Andrea A; Olschewski, Horst H; Ouwehand, Willem H WH; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Suntharalingam, Jay J; Toshner, Mark R MR; Trembath, Richard C RC; Vonk Noordegraaf, Anton A; Wort, Stephen J SJ; Wilkins, Martin R MR; Yu, Paul B PB; Li, Wei W; Gräf, Stefan S; Upton, Paul D PD; Morrell, Nicholas W NW

Publication Date: 2020-03-01

Variant appearance in text: BMP9: I118F

PubMed Link: 31661308

Variant Present in the following documents:

• Main text

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Evolutionary history of Tibetans inferred from whole-genome sequencing.

Plos Genetics

Hu, Hao H; Petousi, Nayia N; Glusman, Gustavo G; Yu, Yao Y; Bohlender, Ryan R; Tashi, Tsewang T; Downie, Jonathan M JM; Roach, Jared C JC; Cole, Amy M AM; Lorenzo, Felipe R FR; Rogers, Alan R AR; Brunkow, Mary E ME; Cavalleri, Gianpiero G; Hood, Leroy L; Alpatty, Sama M SM; Prchal, Josef T JT; Jorde, Lynn B LB; Robbins, Peter A PA; Simonson, Tatum S TS; Huff, Chad D CD

Publication Date: 2017-04

Variant appearance in text: GDF2: I118F

PubMed Link: 28448578

Variant Present in the following documents:

• pgen.1006675.s011.xlsx, sheet 1

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: GDF2: I118F

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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