Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.
Galka-Marciniak P et al.
Nucleic Acids Research, 2021
33406242 (PubMed )
Supplement: gkaa1223_supplemental_files.zip › GalkaMarciniak_Suppl_Table_S3.xlsx › Supplementare_TAble_S3
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.
Liu JW et al.
Chinese Medical Journal, 2016
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.
Murata I et al.
Journal of Dermatological Science, 2010
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
Suzuki N et al.
The Journal of Investigative Dermatology, 2005
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