Publications:

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs34281911

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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FUBP1: a new protagonist in splicing regulation of the DMD gene.

Nucleic Acids Research

Miro, Julie J; Laaref, Abdelhamid Mahdi AM; Rofidal, Valérie V; Lagrafeuille, Rosyne R; Hem, Sonia S; Thorel, Delphine D; Méchin, Déborah D; Mamchaoui, Kamel K; Mouly, Vincent V; Claustres, Mireille M; Tuffery-Giraud, Sylvie S

Publication Date: 2015-02-27

Variant appearance in text: rs34281911

PubMed Link: 25662218

Variant Present in the following documents:

• Main text
• gkv086.pdf

View BVdb publication page