Associated Papers
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
38459814 (PubMed )
Supplement: deae043_supplementary_table_s5.xlsx › Ovarian_Carcinoma
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.
Fontana D et al.
Nature Communications, 2020
33230096 (PubMed )
Supplement: 41467_2020_19721_MOESM13_ESM.xlsx › Sheet1
Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations.
Montagnani V et al.
Oncotarget, 2016
27095580 (PubMed )
Supplement: oncotarget-07-30365-s002.pdf
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1
Select a paper to view details