Associated Papers
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene.
Desai M et al.
Computational Biology and Chemistry, 2017
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P et al.
Journal of Inherited Metabolic Disease, 2015
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