Publications:

A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: L628P

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: L628P

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

View BVdb publication page

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: 1883T>C; Leu628Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• 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: 1883T>C; Leu628Pro

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MTHFR: L628P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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