Publications:

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs3730349

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 24
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: PRKAR1A: A29A; rs3730349

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PRKAR1A: 87G>A; Ala29=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: PRKAR1A: 87G>A; rs3730349

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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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: PRKAR1A: A29A; rs3730349

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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PRKAR1A gene analysis and protein kinase A activity in endometrial tumors.

Endocrine-Related Cancer

Tsigginou, A A; Bimpaki, E E; Nesterova, M M; Horvath, A A; Boikos, S S; Lyssikatos, C C; Papageorgiou, C C; Dimitrakakis, C C; Rodolakis, A A; Stratakis, C A CA; Antsaklis, A A

Publication Date: 2012-08

Variant appearance in text: PRKAR1A: 87G>A; Ala29Ala

PubMed Link: 22461635

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Human Mutation

Horvath, Anélia A; Bertherat, Jérôme J; Groussin, Lionel L; Guillaud-Bataille, Marine M; Tsang, Kitman K; Cazabat, Laure L; Libé, Rosella R; Remmers, Elaine E; René-Corail, Fernande F; Faucz, Fabio Rueda FR; Clauser, Eric E; Calender, Alain A; Bertagna, Xavier X; Carney, J Aidan JA; Stratakis, Constantine A CA

Publication Date: 2010-04

Variant appearance in text: PRKAR1A: 87G>A; A29A

PubMed Link: 20358582

Variant Present in the following documents:

• Main text

View BVdb publication page

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