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: RPS6KB2: 799-4C>A; rs79886599

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.

Molecular Genetics & Genomic Medicine

Zhang, Lishan L; Chen, Xiaobin X; Xu, Lanwei L; Guan, Shibing S; Wang, Dehua D; Lin, Yanliang Y; Wang, Zengtao Z

Publication Date: 2020-06

Variant appearance in text: rs79886599

PubMed Link: 32253825

Variant Present in the following documents:

• MGG3-8-e1223-s001.xls, sheet 1

View BVdb publication page