Publications:

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Bmc Neurology

Chen, Jiannan J; Zhao, Zhe Z; Shen, Hongrui H; Bing, Qi Q; Li, Nan N; Guo, Xuan X; Hu, Jing J

Publication Date: 2022-05-16

Variant appearance in text: MTHFR: A233G

PubMed Link: 35578252

Variant Present in the following documents:

• Main text
• 12883_2022_Article_2708.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: MTHFR: 698C>G; Ala233Gly

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology

Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M

Publication Date: 2019

Variant appearance in text: MTHFR: 698C>G; Ala233Gly

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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