FOXD4 c.533G>A ;(p.W178*)
Variant ID: 9-117587-C-T
NM_207305.4(FOXD4):c.533G>A;(p.W178*)
This variant was identified in 1 publication
Variant-Specific Resource Links:
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: FOXD4: 533G>A
Variant Present in the following documents: