Publications:

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GAA: 1209C>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: GAA: 1209C>A

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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1,6-epi-Cyclophellitol Cyclosulfamidate Is a Bona Fide Lysosomal α-Glucosidase Stabilizer for the Treatment of Pompe Disease.

Journal Of The American Chemical Society

Kok, Ken K; Kuo, Chi-Lin CL; Katzy, Rebecca E RE; Lelieveld, Lindsey T LT; Wu, Liang L; Roig-Zamboni, Véronique V; van der Marel, Gijsbert A GA; Codée, Jeroen D C JDC; Sulzenbacher, Gerlind G; Davies, Gideon J GJ; Overkleeft, Herman S HS; Aerts, Johannes M F G JMFG; Artola, Marta M

Publication Date: 2022-08-17

Variant appearance in text: GAA: N403K

PubMed Link: 35917590

Variant Present in the following documents:

• Main text
• ja2c05666.pdf
• ja2c05666_si_001.pdf

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A missense mutation in Kcnc3 causes hippocampal learning deficits in mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Xu, Pin P; Shimomura, Kazuhiro K; Lee, Changhoon C; Gao, Xiaofei X; Simpson, Eleanor H EH; Huang, Guocun G; Joseph, Chryshanthi M CM; Kumar, Vivek V; Ge, Woo-Ping WP; Pawlowski, Karen S KS; Frye, Mitchell D MD; Kourrich, Saïd S; Kandel, Eric R ER; Takahashi, Joseph S JS

Publication Date: 2022-08-02

Variant appearance in text: GAA: N403K

PubMed Link: 35881790

Variant Present in the following documents:

• pnas.2204901119.sd02.xlsx, sheet 1

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1209C>A

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1209C>A

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: GAA: 1209C>A

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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