Publications:

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: GAA: 506T>C

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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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: 506T>C

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One

Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW

Publication Date: 2020

Variant appearance in text: GAA: L169P

PubMed Link: 33151962

Variant Present in the following documents:

• pone.0234100.s006.xlsx, sheet 2
• pone.0234100.s006.xlsx, sheet 1

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: L169P

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

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Discovery of a novel noniminosugar acid α glucosidase chaperone series.

Journal Of Medicinal Chemistry

Xiao, Jingbo J; Westbroek, Wendy W; Motabar, Omid O; Lea, Wendy A WA; Hu, Xin X; Velayati, Arash A; Zheng, Wei W; Southall, Noel N; Gustafson, Ann Marie AM; Goldin, Ehud E; Sidransky, Ellen E; Liu, Ke K; Simeonov, Anton A; Tamargo, Rafael J RJ; Ribes, Antonia A; Matalonga, Leslie L; Ferrer, Marc M; Marugan, Juan J JJ

Publication Date: 2012-09-13

Variant appearance in text: GAA: L169P

PubMed Link: 22834902

Variant Present in the following documents:

• Main text

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