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Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum

BiologyLast NucleotidesNatural SciencesGeneticsGenetic DisorderDna ReplicationPathologyGenetic MechanismMolecular GeneticsDisease Gene IdentificationGenomicsNonsense MutationMedicineSplicing VariantXpac GeneMutagenesis