Publications:

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Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Molecular Genetics & Genomic Medicine

Shi, Ruirui R; Li, Xuefen X; Zhang, Jianyun J; Chen, Feng F; Ma, Ming M; Feng, Yanrui Y; Li, Tiejun T

Publication Date: 2022-01-05

Variant appearance in text: TP53: K164Sfs*5

PubMed Link: 34989160

Variant Present in the following documents:

• Main text
• MGG3-10-e1861.pdf

View BVdb publication page

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Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Molecular Genetics & Genomic Medicine

Shi, Ruirui R; Li, Xuefen X; Zhang, Jianyun J; Chen, Feng F; Ma, Ming M; Feng, Yanrui Y; Li, Tiejun T

Publication Date: 2022-01

Variant appearance in text: TP53: K164Sfs*5

PubMed Link: 34989160

Variant Present in the following documents:

• Main text
• MGG3-10-e1861.pdf

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: TP53: 491_494del; K164Sfs*5

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics

Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I

Publication Date: 2021-12

Variant appearance in text: TP53: 491_494del

PubMed Link: 33051313

Variant Present in the following documents:

• jmedgenet-2020-107059supp002.pdf

View BVdb publication page

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Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics

Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I

Publication Date: 2021-12

Variant appearance in text: TP53: 491_494del

PubMed Link: 33051313

Variant Present in the following documents:

• jmedgenet-2020-107059supp002.pdf

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 491_494del

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Genome-wide DNA methylation profiling shows molecular heterogeneity of anaplastic pleomorphic xanthoastrocytoma.

Cancer Science

Nakamura, Taishi T; Fukuoka, Kohei K; Nakano, Yoshiko Y; Yamasaki, Kai K; Matsushita, Yuko Y; Yamashita, Satoshi S; Ikeda, Junji J; Udaka, Naoko N; Tanoshima, Reo R; Shiba, Norio N; Tateishi, Kensuke K; Yamanaka, Shoji S; Yamamoto, Tetsuya T; Hirato, Junko J; Ichimura, Koichi K

Publication Date: 2019-02

Variant appearance in text: TP53: 490_493delAAGC

PubMed Link: 30609203

Variant Present in the following documents:

• CAS-110-828-s011.xlsx, sheet 1

View BVdb publication page

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