Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 2220G>C

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: TG: 2220G>C

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

American Journal Of Human Genetics

Kaiyrzhanov, Rauan R; Mohammed, Sami E M SEM; Maroofian, Reza R; Husain, Ralf A RA; Catania, Alessia A; Torraco, Alessandra A; Alahmad, Ahmad A; Dutra-Clarke, Marina M; Grønborg, Sabine S; Sudarsanam, Annapurna A; Vogt, Julie J; Arrigoni, Filippo F; Baptista, Julia J; Haider, Shahzad S; Feichtinger, René G RG; Bernardi, Paolo P; Zulian, Alessandra A; Gusic, Mirjana M; Efthymiou, Stephanie S; Bai, Renkui R; Bibi, Farah F; Horga, Alejandro A; Martinez-Agosto, Julian A JA; Lam, Amanda A; Manole, Andreea A; Rodriguez, Diego-Perez DP; Durigon, Romina R; Pyle, Angela A; Albash, Buthaina B; Dionisi-Vici, Carlo C; Murphy, David D; Martinelli, Diego D; Bugiardini, Enrico E; Allis, Katrina K; Lamperti, Costanza C; Reipert, Siegfried S; Risom, Lotte L; Laugwitz, Lucia L; Di Nottia, Michela M; McFarland, Robert R; Vilarinho, Laura L; Hanna, Michael M; Prokisch, Holger H; Mayr, Johannes A JA; Bertini, Enrico Silvio ES; Ghezzi, Daniele D; Østergaard, Elsebet E; Wortmann, Saskia B SB; Carrozzo, Rosalba R; Haack, Tobias B TB; Taylor, Robert W RW; Spinazzola, Antonella A; Nowikovsky, Karin K; Houlden, Henry H

Publication Date: 2022-09-01

Variant appearance in text: TG: 2220G>C

PubMed Link: 36055214

Variant Present in the following documents:

• mmc7.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: TG: 2220G>C

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Regulation of lysosome biogenesis and functions in osteoclasts.

Cell Cycle (Georgetown, Tex.)

Lacombe, Julie J; Karsenty, Gérard G; Ferron, Mathieu M

Publication Date: 2013-09-01

Variant appearance in text: TGN: R740S

PubMed Link: 23966172

Variant Present in the following documents:

• Main text

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Versatile roles of V-ATPases accessory subunit Ac45 in osteoclast formation and function.

Plos One

Qin, An A; Cheng, Tak S TS; Lin, Zhen Z; Pavlos, Nathan J NJ; Jiang, Qing Q; Xu, Jiake J; Dai, Ke R KR; Zheng, Ming H MH

Publication Date: 2011

Variant appearance in text: TG: R740S

PubMed Link: 22087256

Variant Present in the following documents:

• pone.0027155.pdf

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