Publications:

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: FLNB: Arg649*; rs80356517

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Bmc Musculoskeletal Disorders

Yasin, Samina S; Makitie, Outi O; Naz, Sadaf S

Publication Date: 2021-01-06

Variant appearance in text: FLNB: 1945C>T

PubMed Link: 33407338

Variant Present in the following documents:

• 12891_2020_Article_3890.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: FLNB: 1945C>T; Arg649*; rs80356517

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: FLNB: 1945C>T; Arg649Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Plos One

Polla, Daniel L DL; Cardoso, Maria T O MT; Silva, Mayara C B MC; Cardoso, Isabela C C IC; Medina, Cristina T N CT; Araujo, Rosenelle R; Fernandes, Camila C CC; Reis, Alessandra M M AM; de Andrade, Rosangela V RV; Pereira, Rinaldo W RW; Pogue, Robert R

Publication Date: 2015

Variant appearance in text: FLNB: 1945C>T; Arg649Ter

PubMed Link: 26380986

Variant Present in the following documents:

• Main text
• pone.0138314.s002.xls, sheet 1
• pone.0138314.pdf

View BVdb publication page

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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Human Molecular Genetics

Farrington-Rock, Claire C; Kirilova, Veneta V; Dillard-Telm, Lisa L; Borowsky, Alexander D AD; Chalk, Sara S; Rock, Matthew J MJ; Cohn, Daniel H DH; Krakow, Deborah D

Publication Date: 2008-03-01

Variant appearance in text: FLNB: 1945C>T; Arg649X

PubMed Link: 17635842

Variant Present in the following documents:

• Main text

View BVdb publication page

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