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: 2286del

PubMed Link: 36817643

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine

Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X

Publication Date: 2022-03

Variant appearance in text: TG: 2286delG

PubMed Link: 35343078

Variant Present in the following documents:

• CTM2-12-e773-s001.pdf

View BVdb publication page