Associated Papers
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ et al.
Frontiers in Aging, 2023
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.
Zirn B et al.
Skin Health and Disease, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Ajeawung NF et al.
American Journal of Human Genetics, 2019
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