Publications:

A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: PC: A416S

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Research And Practice In Thrombosis And Haemostasis

Maruyama, Keiko K; Kokame, Koichi K

Publication Date: 2021-01

Variant appearance in text: PC: 1246G>T; A416S

PubMed Link: 33537542

Variant Present in the following documents:

• Main text
• RTH2-5-179.pdf

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Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Haematologica

Kim, Hee-Jin HJ; Seo, Ja-Young JY; Lee, Ki-O KO; Bang, Sung-Hwan SH; Lee, Seung-Tae ST; Ki, Chang-Seok CS; Kim, Jong-Won JW; Jung, Chul Won CW; Kim, Duk-Kyung DK; Kim, Sun-Hee SH

Publication Date: 2014-03

Variant appearance in text: PC: Ala416Ser

PubMed Link: 24162787

Variant Present in the following documents:

• Main text

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The mutational landscape of lethal castration-resistant prostate cancer.

Nature

Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA

Publication Date: 2012-07-12

Variant appearance in text: PC: A416S

PubMed Link: 22722839

Variant Present in the following documents:

• NIHMS368879-supplement-2.xlsx, sheet 4

View BVdb publication page