Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S4__MITNGS_S4_
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
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.
Zhou S et al.
The Journal of Dermatology, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
24490137 (PubMed )
Supplement: mmc5.xlsx › coding
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P1H
Genetic variation in prostaglandin E2 synthesis and signaling, prostaglandin dehydrogenase, and the risk of colorectal adenoma.
Poole EM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.
Grandchamp B et al.
Journal of Bioenergetics and Biomembranes, 1995
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