Publications:

GATA2 deficiency syndrome: A decade of discovery.

Human Mutation

Homan, Claire C CC; Venugopal, Parvathy P; Arts, Peer P; Shahrin, Nur H NH; Feurstein, Simone S; Rawlings, Lesley L; Lawrence, David M DM; Andrews, James J; King-Smith, Sarah L SL; Harvey, Natasha L NL; Brown, Anna L AL; Scott, Hamish S HS; Hahn, Christopher N CN

Publication Date: 2021-11

Variant appearance in text: TP53: 708delC

PubMed Link: 34387894

Variant Present in the following documents:

• HUMU-42-1399-s001.xlsx, sheet 1

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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: 708del; Y236*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.

Journal Of Experimental & Clinical Cancer Research : Cr

Fujii, Yasutoshi Y; Ono, Atsushi A; Hayes, C Nelson CN; Aikata, Hiroshi H; Yamauchi, Masami M; Uchikawa, Shinsuke S; Kodama, Kenichiro K; Teraoka, Yuji Y; Fujino, Hatsue H; Nakahara, Takashi T; Murakami, Eisuke E; Miki, Daiki D; Okamoto, Wataru W; Kawaoka, Tomokazu T; Tsuge, Masataka M; Imamura, Michio M; Chayama, Kazuaki K

Publication Date: 2021-06-26

Variant appearance in text: TP53: 708delC

PubMed Link: 34174931

Variant Present in the following documents:

• 13046_2021_2016_MOESM2_ESM.xlsx, sheet 1

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Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications

Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R

Publication Date: 2020-11-27

Variant appearance in text: TP53: 708delC; Y236*

PubMed Link: 33247113

Variant Present in the following documents:

• 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page