Publications:

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: POLE: 4562A>G; Asn1521Ser

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Association of high-risk neuroblastoma classification based on expression profiles with differentiation and metabolism.

Plos One

Kimura, Shunsuke S; Sekiguchi, Masahiro M; Watanabe, Kentaro K; Hiwatarai, Mitsuteru M; Seki, Masafumi M; Yoshida, Kenichi K; Isobe, Tomoya T; Shiozawa, Yusuke Y; Suzuki, Hiromichi H; Hoshino, Noriko N; Hayashi, Yasuhide Y; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2021

Variant appearance in text: POLE: N1521S

PubMed Link: 33465163

Variant Present in the following documents:

• pone.0245526.s011.xlsx, sheet 1

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Germline Variants of Prostate Cancer in Japanese Families.

Plos One

Hayano, Takahide T; Matsui, Hiroshi H; Nakaoka, Hirofumi H; Ohtake, Nobuaki N; Hosomichi, Kazuyoshi K; Suzuki, Kazuhiro K; Inoue, Ituro I

Publication Date: 2016

Variant appearance in text: POLE: N1521S

PubMed Link: 27701467

Variant Present in the following documents:

• pone.0164233.s005.xlsx, sheet 1

View BVdb publication page