Publications:

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Npj Precision Oncology

Liu, Xuguang X; Huang, Xin X; Bai, Yan Y; Zhang, Zhiwen Z; Jin, Tiefeng T; Wu, Huanwen H; Liang, Zhiyong Z

Publication Date: 2021-05-18

Variant appearance in text: MTHFR: W389X

PubMed Link: 34007008

Variant Present in the following documents:

• 41698_2021_180_MOESM3_ESM.xlsx, sheet 1

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The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.

Aging

Liu, Xi X; Li, Yu Y; Wang, Menghan M; Wang, Xiaojun X; Zhang, Limin L; Peng, Tao T; Liang, Wenping W; Wang, Zhe Z; Lu, Hong H

Publication Date: 2020-12-03

Variant appearance in text: MTHFR: 1166G>A

PubMed Link: 33290257

Variant Present in the following documents:

• Main text
• aging-13-202256.pdf

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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: 1166G>A

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal Of Inherited Metabolic Disease

Huemer, Martina M; Mulder-Bleile, Regina R; Burda, Patricie P; Froese, D Sean DS; Suormala, Terttu T; Zeev, Bruria Ben BB; Chinnery, Patrick F PF; Dionisi-Vici, Carlo C; Dobbelaere, Dries D; Gökcay, Gülden G; Demirkol, Mübeccel M; Häberle, Johannes J; Lossos, Alexander A; Mengel, Eugen E; Morris, Andrew A AA; Niezen-Koning, Klary E KE; Plecko, Barbara B; Parini, Rossella R; Rokicki, Dariusz D; Schiff, Manuel M; Schimmel, Mareike M; Sewell, Adrian C AC; Sperl, Wolfgang W; Spiekerkoetter, Ute U; Steinmann, Beat B; Taddeucci, Grazia G; Trejo-Gabriel-Galán, Jose M JM; Trefz, Friedrich F; Tsuji, Megumi M; Vilaseca, María Antònia MA; von Kleist-Retzow, Jürgen-Christoph JC; Walker, Valerie V; Zeman, Jiri J; Baumgartner, Matthias R MR; Fowler, Brian B

Publication Date: 2016-01

Variant appearance in text: N/A

PubMed Link: 26025547

Variant Present in the following documents:

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