Publications:

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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: N324S

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: N324S

PubMed Link: 35008593

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 971A>G; Asn324Ser

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: 971A>G; Asn324Ser

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: 971A>G; Asn324Ser

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MTHFR: N324S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MTHFR: N324S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Functional consequences of PRODH missense mutations.

American Journal Of Human Genetics

Bender, Hans-Ulrich HU; Almashanu, Shlomo S; Steel, Gary G; Hu, Chien-An CA; Lin, Wei-Wen WW; Willis, Alecia A; Pulver, Ann A; Valle, David D

Publication Date: 2005-03

Variant appearance in text: MTHFR: N324S

PubMed Link: 15662599

Variant Present in the following documents:

• Main text

View BVdb publication page

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