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: 1557G>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Frontiers In Genetics

Dong, Rui R; Wei, Xuxia X; Zhang, Kaihui K; Song, Fengling F; Lv, Yuqiang Y; Gao, Min M; Wang, Dong D; Ma, Jian J; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: GAA: 1557G>A; Met519Ile

PubMed Link: 36105079

Variant Present in the following documents:

• Main text
• fgene-13-932760.pdf

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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: 1557G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: GAA: M519I

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

Italian Journal Of Pediatrics

Xu, Lingling L; Ba, Hongjun H; Pei, Yuxin Y; Huang, Xueqiong X; Liang, Yujian Y; Zhang, Lidan L; Huang, Huimin H; Zhang, Cheng C; Tang, Wen W

Publication Date: 2019-08-22

Variant appearance in text: GAA: 1557G>A

PubMed Link: 31439017

Variant Present in the following documents:

• Main text
• 13052_2019_Article_692.pdf

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: GAA: Met519Ile

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

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