Publications:

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Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics

Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y

Publication Date: 2022

Variant appearance in text: GAA: 727G>A

PubMed Link: 36685892

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: GAA: D243N

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: GAA: 727G>A; D243N

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 1

View BVdb publication page

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg

Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S

Publication Date: 2022-03

Variant appearance in text: GAA: 727G>A

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GAA: 727G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: D243N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: GAA: 727G>A

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: GAA: 727G>A; Asp243Asn

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

Nature Genetics

Veeriah, Selvaraju S; Taylor, Barry S BS; Meng, Shasha S; Fang, Fang F; Yilmaz, Emrullah E; Vivanco, Igor I; Janakiraman, Manickam M; Schultz, Nikolaus N; Hanrahan, Aphrothiti J AJ; Pao, William W; Ladanyi, Marc M; Sander, Chris C; Heguy, Adriana A; Holland, Eric C EC; Paty, Philip B PB; Mischel, Paul S PS; Liau, Linda L; Cloughesy, Timothy F TF; Mellinghoff, Ingo K IK; Solit, David B DB; Chan, Timothy A TA

Publication Date: 2010-01

Variant appearance in text: GAA: D243N

PubMed Link: 19946270

Variant Present in the following documents:

• Main text

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