Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GDF2: 203G>T; Arg68Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: GDF2: 203G>T; R68L

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications

Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM

Publication Date: 2019-12-16

Variant appearance in text: GDF2: 203G>T; R68L

PubMed Link: 31844068

Variant Present in the following documents:

• 41467_2019_13732_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: GDF2: R68L

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia.

Frontiers In Genetics

Tillet, Emmanuelle E; Bailly, Sabine S

Publication Date: 2014

Variant appearance in text: BMP9: Arg68Leu

PubMed Link: 25620979

Variant Present in the following documents:

• Main text
• fgene-05-00456.pdf

View BVdb publication page

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BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

American Journal Of Human Genetics

Wooderchak-Donahue, Whitney L WL; McDonald, Jamie J; O'Fallon, Brendan B; Upton, Paul D PD; Li, Wei W; Roman, Beth L BL; Young, Sarah S; Plant, Parker P; Fülöp, Gyula T GT; Langa, Carmen C; Morrell, Nicholas W NW; Botella, Luisa M LM; Bernabeu, Carmelo C; Stevenson, David A DA; Runo, James R JR; Bayrak-Toydemir, Pinar P

Publication Date: 2013-09-05

Variant appearance in text: BMP9: 203G>T

PubMed Link: 23972370

Variant Present in the following documents:

• Main text

View BVdb publication page

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