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
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA
One Rare Warfarin Resistance Case and Possible Mechanism Exploration.
Zhao L et al.
Pharmacogenomics and Personalized Medicine, 2023
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes
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