Publications:

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Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation

Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G

Publication Date: 2023-06-15

Variant appearance in text: 225: G245A

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

View BVdb publication page

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High-throughput mutagenesis identifies mutations and RNA-binding proteins controlling CD19 splicing and CART-19 therapy resistance.

Nature Communications

Cortés-López, Mariela M; Schulz, Laura L; Enculescu, Mihaela M; Paret, Claudia C; Spiekermann, Bea B; Quesnel-Vallières, Mathieu M; Torres-Diz, Manuel M; Unic, Sebastian S; Busch, Anke A; Orekhova, Anna A; Kuban, Monika M; Mesitov, Mikhail M; Mulorz, Miriam M MM; Shraim, Rawan R; Kielisch, Fridolin F; Faber, Jörg J; Barash, Yoseph Y; Thomas-Tikhonenko, Andrei A; Zarnack, Kathi K; Legewie, Stefan S; König, Julian J

Publication Date: 2022-09-22

Variant appearance in text: 225: G245A

PubMed Link: 36138008

Variant Present in the following documents:

• 41467_2022_31818_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: G245A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Pan-cancer analysis of CD274 (PD-L1) mutations in 314,631 patient samples and subset correlation with PD-L1 protein expression.

Journal For Immunotherapy Of Cancer

Huang, Richard S P RSP; Decker, Brennan B; Murugesan, Karthikeyan K; Hiemenz, Matthew M; Mata, Douglas A DA; Li, Gerald G; Creeden, James J; Ramkissoon, Shakti H SH; Ross, Jeffrey S JS

Publication Date: 2021-06

Variant appearance in text: 225: G245A

PubMed Link: 34130989

Variant Present in the following documents:

• jitc-2021-002558supp001.pdf

View BVdb publication page

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Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances

Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF

Publication Date: 2020

Variant appearance in text: 225: G245A

PubMed Link: 32904945

Variant Present in the following documents:

• vdaa088_suppl_supplementary_tables.xlsx, sheet 2
• vdaa088_suppl_supplementary_tables.xlsx, sheet 3

View BVdb publication page

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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: 734G>C

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: 225: 734G>C

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis.

Nature Communications

Braun, Simon S; Enculescu, Mihaela M; Setty, Samarth T ST; Cortés-López, Mariela M; de Almeida, Bernardo P BP; Sutandy, F X Reymond FXR; Schulz, Laura L; Busch, Anke A; Seiler, Markus M; Ebersberger, Stefanie S; Barbosa-Morais, Nuno L NL; Legewie, Stefan S; König, Julian J; Zarnack, Kathi K

Publication Date: 2018-08-17

Variant appearance in text: 225: G245A

PubMed Link: 30120239

Variant Present in the following documents:

• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 9
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 10
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 7
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 2
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 8
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 5
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 6
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 4
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: 225: G245A

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: 225: G245A

PubMed Link: 26388441

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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