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
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
Schnappauf O et al.
Pediatric Rheumatology Online Journal, 2021
33892719 (PubMed )
Supplement: 12969_2021_536_MOESM1_ESM.docx
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Demirkaya E et al.
Arthritis & Rheumatology (hoboken, N.j.), 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-A0CT-01A.domain
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