Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: CPPED1: 418G>A; E140K

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: CPPED1: E140K; rs149102231

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.

Frontiers In Genetics

Zaki, Maha M; Thoenes, Michaela M; Kawalia, Amit A; Nürnberg, Peter P; Kaiser, Rolf R; Heller, Raoul R; Bolz, Hanno J HJ

Publication Date: 2017

Variant appearance in text: rs149102231

PubMed Link: 29018476

Variant Present in the following documents:

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: CPPED1: 418G>A; Glu140Lys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: CPPED1: E140K

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: CPPED1: E140K

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CPPED1: E140K

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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