Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 1165G>C

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa

Yang, Lin L; Liu, Bo B; Dong, Xinran X; Wu, Jing J; Sun, Chengjun C; Xi, Li L; Cheng, Ruoqian R; Wu, Bingbing B; Wang, Huijun H; Tong, Shiyuan S; Wang, Dahui D; Luo, Feihong F

Publication Date: 2022-06

Variant appearance in text: GC: Gly389Arg

PubMed Link: 35044492

Variant Present in the following documents:

• 198_2021_6263_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms in ADRB2 and ADRB1 are associated with differential survival in heart failure patients taking β-blockers.

The Pharmacogenomics Journal

Guerra, Leonardo A LA; Lteif, Christelle C; Arwood, Meghan J MJ; McDonough, Caitrin W CW; Dumeny, Leanne L; Desai, Ankit A AA; Cavallari, Larisa H LH; Duarte, Julio D JD

Publication Date: 2022-02

Variant appearance in text: GC: Gly389Arg

PubMed Link: 34642472

Variant Present in the following documents:

• nihms-1744179.pdf

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Association Study of the Beta-Adrenergic Receptor Genetic Variant Gly389Arg and Fluoxetine Response in Major Depression.

Galen Medical Journal

Firouzabadi, Negar N; Asadpour, Roja R; Zomorrodian, Kamiar K

Publication Date: 2020

Variant appearance in text: GC: Gly389Arg

PubMed Link: 34466591

Variant Present in the following documents:

• Main text
• gmj-9-e1781.pdf

View BVdb publication page

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Brain volumetric deficits in MAPT mutation carriers: a multisite study.

Annals Of Clinical And Translational Neurology

Chu, Stephanie A SA; Flagan, Taru M TM; Staffaroni, Adam M AM; Jiskoot, Lize C LC; Deng, Jersey J; Spina, Salvatore S; Zhang, Liwen L; Sturm, Virginia E VE; Yokoyama, Jennifer S JS; Seeley, William W WW; Papma, Janne M JM; Geschwind, Dan H DH; Rosen, Howard J HJ; Boeve, Bradley F BF; Boxer, Adam L AL; Heuer, Hilary W HW; Forsberg, Leah K LK; Brushaber, Danielle E DE; Grossman, Murray M; Coppola, Giovanni G; Dickerson, Bradford C BC; Bordelon, Yvette M YM; Faber, Kelley K; Feldman, Howard H HH; Fields, Julie A JA; Fong, Jamie C JC; Foroud, Tatiana T; Gavrilova, Ralitza H RH; Ghoshal, Nupur N; Graff-Radford, Neill R NR; Hsiung, Ging-Yuek Robin GR; Huey, Edward D ED; Irwin, David J DJ; Kantarci, Kejal K; Kaufer, Daniel I DI; Karydas, Anna M AM; Knopman, David S DS; Kornak, John J; Kramer, Joel H JH; Kukull, Walter A WA; Lapid, Maria I MI; Litvan, Irene I; Mackenzie, Ian R A IRA; Mendez, Mario F MF; Miller, Bruce L BL; Onyike, Chiadi U CU; Pantelyat, Alexander Y AY; Rademakers, Rosa R; Marisa Ramos, Eliana E; Roberson, Erik D ED; Carmela Tartaglia, Maria M; Tatton, Nadine A NA; Toga, Arthur W AW; Vetor, Ashley A; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew K ZK; , ; Van Swieten, John C JC; Lee, Suzee E SE

Publication Date: 2021-01

Variant appearance in text: GC: G389R

PubMed Link: 33247623

Variant Present in the following documents:

• Main text
• ACN3-8-95.pdf

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: GC: Gly389Arg

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: GC: G389R

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 5
• NIHMS753666-supplement-2.xlsx, sheet 8

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GC: G389R

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Polymorphisms of β 1-adrenoreceptor gene and cardiovascular complications in patients with thyrotoxicosis.

Biomed Research International

Babenko, A Y AY; Grineva, E N EN; Savitskaja, D A DA; Kravchuk, E N EN; Solncev, V N VN; Kostareva, A A AA

Publication Date: 2014

Variant appearance in text: GC: Gly389Arg

PubMed Link: 24982877

Variant Present in the following documents:

• Main text
• BMRI2014-402897.pdf

View BVdb publication page

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Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Plos One

Egan, Jan B JB; Barrett, Michael T MT; Champion, Mia D MD; Middha, Sumit S; Lenkiewicz, Elizabeth E; Evers, Lisa L; Francis, Princy P; Schmidt, Jessica J; Shi, Chang-Xin CX; Van Wier, Scott S; Badar, Sandra S; Ahmann, Gregory G; Kortuem, K Martin KM; Boczek, Nicole J NJ; Fonseca, Rafael R; Craig, David W DW; Carpten, John D JD; Borad, Mitesh J MJ; Stewart, A Keith AK

Publication Date: 2014

Variant appearance in text: GC: G389R

PubMed Link: 24505276

Variant Present in the following documents:

• pone.0087113.s004.xls, sheet 1

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Beta1- and alpha2c-adrenoreceptor variants as predictors of clinical aspects of dilated cardiomyopathy in people of African ancestry.

Cardiovascular Journal Of Africa

Woodiwiss, A J AJ; Badenhorst, D D; Sliwa, K K; Brooksbank, R R; Essop, R R; Sareli, P P; Norton, G R GR

Publication Date: 2008

Variant appearance in text: GC: Gly389Arg

PubMed Link: 18776959

Variant Present in the following documents:

• Main text

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No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.

Bmc Medical Genetics

Sánchez-Juan, Pascual P; Bishop, Matthew T MT; Green, Alison A; Giannattasio, Claudia C; Arias-Vasquez, Alejandro A; Poleggi, Anna A; Knight, Richard S G RS; van Duijn, Cornelia M CM

Publication Date: 2007-12-11

Variant appearance in text: GC: G389R

PubMed Link: 18072964

Variant Present in the following documents:

• 1471-2350-8-77.pdf

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