Publications:

Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications

Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C

Publication Date: 2022-12-05

Variant appearance in text: BRCA2: R212*

PubMed Link: 36470859

Variant Present in the following documents:

• 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2

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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: BRCA2: R212*

PubMed Link: 34387894

Variant Present in the following documents:

• HUMU-42-1399-s001.xlsx, sheet 1

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 634A>T; Arg212X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

Haematologica

Wang, Xinan X; Muramatsu, Hideki H; Okuno, Yusuke Y; Sakaguchi, Hirotoshi H; Yoshida, Kenichi K; Kawashima, Nozomu N; Xu, Yinyan Y; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Saito, Shoji S; Nakazawa, Yozo Y; Masunari, Taro T; Hirose, Tadashi T; Elmahdi, Shaimaa S; Narita, Atsushi A; Doisaki, Sayoko S; Ismael, Olfat O; Makishima, Hideki H; Hama, Asahito A; Miyano, Satoru S; Takahashi, Yoshiyuki Y; Ogawa, Seishi S; Kojima, Seiji S

Publication Date: 2015-10

Variant appearance in text: BRCA2: R212X

PubMed Link: 26022708

Variant Present in the following documents:

• Main text

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