Varaico: Literature-Extracted Genetic Variants

Gene:MTHFD1
Variant:p.L769F
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MTHFD1

NM_005956.4:p.L769F

Associated Papers

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Patel D et al.

Jama Network Open, 2019

30924900 (PubMed )
Supplement: jamanetwopen-2-e191350-s001.pdf

Quality control of single amino acid variations detected by tandem mass spectrometry.

Yi X et al.

Journal of Proteomics, 2018

Association between MTHFD1 polymorphisms and neural tube defect susceptibility.

Meng J et al.

Journal of the Neurological Sciences, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."