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: G245E

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

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: G245E

PubMed Link: 34130989

Variant Present in the following documents:

• jitc-2021-002558supp001.pdf

View BVdb publication page

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Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: 225: Gly245Glu

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of antibody recognition in convalescent humans from highly pathogenic avian influenza H5N1 infection.

Nature Communications

Zuo, Teng T; Sun, Jianfeng J; Wang, Guiqin G; Jiang, Liwei L; Zuo, Yanan Y; Li, Danyang D; Shi, Xuanling X; Liu, Xi X; Fan, Shilong S; Ren, Huanhuan H; Hu, Hongxing H; Sun, Lina L; Zhou, Boping B; Liang, Mifang M; Zhou, Paul P; Wang, Xinquan X; Zhang, Linqi L

Publication Date: 2015-12-04

Variant appearance in text: 225: G245E

PubMed Link: 26635249

Variant Present in the following documents:

• ncomms9855-s1.pdf

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: 225: G245E

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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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: G245E

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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