Publications:

Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics

Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP

Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 1530+2T>C

PubMed Link: 34214447

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MTHFR: 1530+2T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: 1530+2T>C

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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RED-ML: a novel, effective RNA editing detection method based on machine learning.

Gigascience

Xiong, Heng H; Liu, Dongbing D; Li, Qiye Q; Lei, Mengyue M; Xu, Liqin L; Wu, Liang L; Wang, Zongji Z; Ren, Shancheng S; Li, Wangsheng W; Xia, Min M; Lu, Lihua L; Lu, Haorong H; Hou, Yong Y; Zhu, Shida S; Liu, Xin X; Sun, Yinghao Y; Wang, Jian J; Yang, Huanming H; Wu, Kui K; Xu, Xun X; Lee, Leo J LJ

Publication Date: 2017-05-01

Variant appearance in text: MTHFR: 1530+2T>C

PubMed Link: 28328004

Variant Present in the following documents:

• gix012_TableS11.xlsx, sheet 2

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