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: 2096T>C; L699P

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.

Nature Communications

Garvie, Colin W CW; Wu, Xiaoyun X; Papanastasiou, Malvina M; Lee, Sooncheol S; Fuller, James J; Schnitzler, Gavin R GR; Horner, Steven W SW; Baker, Andrew A; Zhang, Terry T; Mullahoo, James P JP; Westlake, Lindsay L; Hoyt, Stephanie H SH; Toetzl, Marcus M; Ranaghan, Matthew J MJ; de Waal, Luc L; McGaunn, Joseph J; Kaplan, Bethany B; Piccioni, Federica F; Yang, Xiaoping X; Lange, Martin M; Tersteegen, Adrian A; Raymond, Donald D; Lewis, Timothy A TA; Carr, Steven A SA; Cherniack, Andrew D AD; Lemke, Christopher T CT; Meyerson, Matthew M; Greulich, Heidi H

Publication Date: 2021-07-16

Variant appearance in text: GAA: L699P

PubMed Link: 34272366

Variant Present in the following documents:

• 41467_2021_24495_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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: 2096T>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

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: 2096T>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 2096T>C; Leu699Pro

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

View BVdb publication page