Associated Papers
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?
Bahap Y et al.
Molecular Syndromology, 2024
A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran.
Ahmadi Shadmehri A et al.
Advanced Biomedical Research, 2023
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nakazawa Y et al.
Nature Genetics, 2012
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
Zhang X et al.
Nature Genetics, 2012
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