Associated Papers
Genomic variation of human microRNAs and its association with functional features.
Cihan M et al.
Cellular and Molecular Life Sciences : Cmls, 2025
41258433 (PubMed )
Supplement: 18_2025_5936_MOESM3_ESM.xlsx › clinvar_results
Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.
Michieletto P et al.
Genes, 2025
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
Guéant JL et al.
Human Genetics, 2022
Cis-Acting Factors Causing Secondary Epimutations: Impact on the Risk for Cancer and Other Diseases.
Ruiz de la Cruz M et al.
Cancers, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C et al.
Clinical Epigenetics, 2021
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL et al.
Nature Communications, 2018
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