Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
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Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
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
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
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Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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