Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1060500129

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

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Combined assay of Circulating Tumor DNA and Protein Biomarkers for early noninvasive detection and prognosis of Non-Small Cell Lung Cancer.

Journal Of Cancer

Yin, Jian-Xin JX; Hu, Wen-Wei WW; Gu, Hua H; Fang, Jian-Min JM

Publication Date: 2021

Variant appearance in text: PTEN: 421C>T; H141Y

PubMed Link: 33442424

Variant Present in the following documents:

• jcav12p1258s2.xlsx, sheet 7

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: H141Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: PTEN: H141Y

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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Integrated genomics approach to identify biologically relevant alterations in fewer samples.

Bmc Genomics

Chandrani, Pratik P; Upadhyay, Pawan P; Iyer, Prajish P; Tanna, Mayur M; Shetty, Madhur M; Raghuram, Gorantala Venkata GV; Oak, Ninad N; Singh, Ankita A; Chaubal, Rohan R; Ramteke, Manoj M; Gupta, Sudeep S; Dutt, Amit A

Publication Date: 2015-11-14

Variant appearance in text: PTEN: H141Y

PubMed Link: 26572163

Variant Present in the following documents:

• Main text
• 12864_2015_Article_2138.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: H141Y

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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