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: 995C>T; S332L

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.

Communications Biology

Reyes, Gloria X GX; Zhao, Boyu B; Schmidt, Tobias T TT; Gries, Kerstin K; Kloor, Matthias M; Hombauer, Hans H

Publication Date: 2020-12-10

Variant appearance in text: GAA: 995C>T

PubMed Link: 33303966

Variant Present in the following documents:

• 42003_2020_1481_MOESM1_ESM.pdf

View BVdb publication page

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: S332L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page