Publications:

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.

Molecular Genetics And Metabolism Reports

Huynh, Minh-Tuan MT; Landais, Emilie E; Agathe, Jean-Madeleine De Sainte JS; Panchout, Anne A; Caroline, De Vanssay De Blavous-Legendre VB; Bruel, Henri H

Publication Date: 2023-03

Variant appearance in text: TG: 382dup

PubMed Link: 36817643

Variant Present in the following documents:

• mmc3.xlsx, sheet 4

View BVdb publication page

Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: TG: 383dupC

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Cell

Atanur, Santosh S SS; Diaz, Ana Garcia AG; Maratou, Klio K; Sarkis, Allison A; Rotival, Maxime M; Game, Laurence L; Tschannen, Michael R MR; Kaisaki, Pamela J PJ; Otto, Georg W GW; Ma, Man Chun John MC; Keane, Thomas M TM; Hummel, Oliver O; Saar, Kathrin K; Chen, Wei W; Guryev, Victor V; Gopalakrishnan, Kathirvel K; Garrett, Michael R MR; Joe, Bina B; Citterio, Lorena L; Bianchi, Giuseppe G; McBride, Martin M; Dominiczak, Anna A; Adams, David J DJ; Serikawa, Tadao T; Flicek, Paul P; Cuppen, Edwin E; Hubner, Norbert N; Petretto, Enrico E; Gauguier, Dominique D; Kwitek, Anne A; Jacob, Howard H; Aitman, Timothy J TJ

Publication Date: 2013-08-01

Variant appearance in text: TG: 383_384insC

PubMed Link: 23890820

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page