Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: 225: T134P

PubMed Link: 37312046

Variant Present in the following documents:

• 12864_2023_9417_MOESM1_ESM.pdf

View BVdb publication page

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In vivo evolution of an emerging zoonotic bacterial pathogen in an immunocompromised human host.

Nature Communications

Launay, A A; Wu, C-J CJ; Dulanto Chiang, A A; Youn, J-H JH; Khil, P P PP; Dekker, J P JP

Publication Date: 2021-07-23

Variant appearance in text: 225: T134P

PubMed Link: 34301946

Variant Present in the following documents:

• 41467_2021_24668_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_24668_MOESM9_ESM.xlsx, sheet 9

View BVdb publication page

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A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 400A>C

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.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: 225: 400A>C

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: 225: T134P

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 400A>C

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Mata, Ignacio F IF; Leverenz, James B JB; Weintraub, Daniel D; Trojanowski, John Q JQ; Chen-Plotkin, Alice A; Van Deerlin, Vivianna M VM; Ritz, Beate B; Rausch, Rebecca R; Factor, Stewart A SA; Wood-Siverio, Cathy C; Quinn, Joseph F JF; Chung, Kathryn A KA; Peterson-Hiller, Amie L AL; Goldman, Jennifer G JG; Stebbins, Glenn T GT; Bernard, Bryan B; Espay, Alberto J AJ; Revilla, Fredy J FJ; Devoto, Johnna J; Rosenthal, Liana S LS; Dawson, Ted M TM; Albert, Marilyn S MS; Tsuang, Debby D; Huston, Haley H; Yearout, Dora D; Hu, Shu-Ching SC; Cholerton, Brenna A BA; Montine, Thomas J TJ; Edwards, Karen L KL; Zabetian, Cyrus P CP

Publication Date: 2016-01

Variant appearance in text: 225: T134P

PubMed Link: 26296077

Variant Present in the following documents:

• Main text

View BVdb publication page

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