Associated Papers
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › GATK
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC et al.
Molecular Medicine Reports, 2014
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Kim HJ et al.
Orphanet Journal of Rare Diseases, 2013
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
Select a paper to view details