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: T139M

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

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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: T139M

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

View BVdb publication page

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: MTHFR: 416C>T; Thr139Met; rs1057519360

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.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: 416C>T; Thr139Met

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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