Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: 225: 727G>T

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A glycogen storage disease type 1a patient with type 2 diabetes.

Bmc Medical Genomics

Sun, Yi Y; Qiang, Wenhui W; Wu, Runze R; Yin, Tong T; Yuan, Jie J; Yuan, Jin J; Gu, Yunjuan Y

Publication Date: 2022-09-27

Variant appearance in text: 225: 727G>T

PubMed Link: 36167523

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1344.pdf

View BVdb publication page

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Mapping of SARS-CoV-2 spike protein evolution during first and second waves of COVID-19 infections in India.

Future Virology

Rajpal, Vijay Rani VR; Sharma, Shashi S; Kumar, Avinash A; Vaishnavi, Samantha S; Singh, Apekshita A; Sehgal, Deepmala D; Tiwari, Mughdha M; Goel, Shailendra S; Raina, Soom Nath SN

Publication Date: 2022-05

Variant appearance in text: 225: A243S

PubMed Link: 35747327

Variant Present in the following documents:

• fvl-2021-0267.pdf

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: 225: 727G>T

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2

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Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic.

Proteins

Lubin, Joseph H JH; Zardecki, Christine C; Dolan, Elliott M EM; Lu, Changpeng C; Shen, Zhuofan Z; Dutta, Shuchismita S; Westbrook, John D JD; Hudson, Brian P BP; Goodsell, David S DS; Williams, Jonathan K JK; Voigt, Maria M; Sarma, Vidur V; Xie, Lingjun L; Venkatachalam, Thejasvi T; Arnold, Steven S; Alfaro Alvarado, Luz Helena LH; Catalfano, Kevin K; Khan, Aaliyah A; McCarthy, Erika E; Staggers, Sophia S; Tinsley, Brea B; Trudeau, Alan A; Singh, Jitendra J; Whitmore, Lindsey L; Zheng, Helen H; Benedek, Matthew M; Currier, Jenna J; Dresel, Mark M; Duvvuru, Ashish A; Dyszel, Britney B; Fingar, Emily E; Hennen, Elizabeth M EM; Kirsch, Michael M; Khan, Ali A AA; Labrie-Cleary, Charlotte C; Laporte, Stephanie S; Lenkeit, Evan E; Martin, Kailey K; Orellana, Marilyn M; Ortiz-Alvarez de la Campa, Melanie M; Paredes, Isaac I; Wheeler, Baleigh B; Rupert, Allison A; Sam, Andrew A; See, Katherine K; Soto Zapata, Santiago S; Craig, Paul A PA; Hall, Bonnie L BL; Jiang, Jennifer J; Koeppe, Julia R JR; Mills, Stephen A SA; Pikaart, Michael J MJ; Roberts, Rebecca R; Bromberg, Yana Y; Hoyer, J Steen JS; Duffy, Siobain S; Tischfield, Jay J; Ruiz, Francesc X FX; Arnold, Eddy E; Baum, Jean J; Sandberg, Jesse J; Brannigan, Grace G; Khare, Sagar D SD; Burley, Stephen K SK

Publication Date: 2022-05

Variant appearance in text: 225: A243S

PubMed Link: 34580920

Variant Present in the following documents:

• Main text
• PROT-9999-0.pdf

View BVdb publication page

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Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic.

Proteins

Lubin, Joseph H JH; Zardecki, Christine C; Dolan, Elliott M EM; Lu, Changpeng C; Shen, Zhuofan Z; Dutta, Shuchismita S; Westbrook, John D JD; Hudson, Brian P BP; Goodsell, David S DS; Williams, Jonathan K JK; Voigt, Maria M; Sarma, Vidur V; Xie, Lingjun L; Venkatachalam, Thejasvi T; Arnold, Steven S; Alfaro Alvarado, Luz Helena LH; Catalfano, Kevin K; Khan, Aaliyah A; McCarthy, Erika E; Staggers, Sophia S; Tinsley, Brea B; Trudeau, Alan A; Singh, Jitendra J; Whitmore, Lindsey L; Zheng, Helen H; Benedek, Matthew M; Currier, Jenna J; Dresel, Mark M; Duvvuru, Ashish A; Dyszel, Britney B; Fingar, Emily E; Hennen, Elizabeth M EM; Kirsch, Michael M; Khan, Ali A AA; Labrie-Cleary, Charlotte C; Laporte, Stephanie S; Lenkeit, Evan E; Martin, Kailey K; Orellana, Marilyn M; Ortiz-Alvarez de la Campa, Melanie M; Paredes, Isaac I; Wheeler, Baleigh B; Rupert, Allison A; Sam, Andrew A; See, Katherine K; Soto Zapata, Santiago S; Craig, Paul A PA; Hall, Bonnie L BL; Jiang, Jennifer J; Koeppe, Julia R JR; Mills, Stephen A SA; Pikaart, Michael J MJ; Roberts, Rebecca R; Bromberg, Yana Y; Hoyer, J Steen JS; Duffy, Siobain S; Tischfield, Jay J; Ruiz, Francesc X FX; Arnold, Eddy E; Baum, Jean J; Sandberg, Jesse J; Brannigan, Grace G; Khare, Sagar D SD; Burley, Stephen K SK

Publication Date: 2021-09-27

Variant appearance in text: 225: A243S

PubMed Link: 34580920

Variant Present in the following documents:

• Main text
• PROT-9999-0.pdf

View BVdb publication page

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Mutational analysis and assessment of its impact on proteins of SARS-CoV-2 genomes from India.

Gene

Laskar, Rezwanuzzaman R; Ali, Safdar S

Publication Date: 2021-04-30

Variant appearance in text: 225: A243S

PubMed Link: 33549714

Variant Present in the following documents:

• mmc1.pdf

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Comprehensive annotations of the mutational spectra of SARS-CoV-2 spike protein: a fast and accurate pipeline.

Transboundary And Emerging Diseases

Rahman, Mohammad Shaminur MS; Islam, Mohammad Rafiul MR; Hoque, Mohammad Nazmul MN; Alam, Abu Sayed Mohammad Rubayet Ul ASMRU; Akther, Masuda M; Puspo, Joynob Akter JA; Akter, Salma S; Anwar, Azraf A; Sultana, Munawar M; Hossain, Mohammad Anwar MA

Publication Date: 2021-05

Variant appearance in text: 225: A243S

PubMed Link: 32954666

Variant Present in the following documents:

• TBED-9999-na-s003.xlsx, sheet 1

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 727G>T

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 727G>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genotypic characterization of UL23 thymidine kinase and UL30 DNA polymerase of clinical isolates of herpes simplex virus: natural polymorphism and mutations associated with resistance to antivirals.

Antimicrobial Agents And Chemotherapy

Burrel, Sonia S; Deback, Claire C; Agut, Henri H; Boutolleau, David D

Publication Date: 2010-11

Variant appearance in text: 225: A243S

PubMed Link: 20733037

Variant Present in the following documents:

• Main text

View BVdb publication page

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