Associated Papers
COSMIC-based mutation database enhances identification efficiency of HLA-I immunopeptidome.
Wang F et al.
Journal of Translational Medicine, 2024
38336780 (PubMed )
Supplement: 12967_2023_4821_MOESM4_ESM.xlsx › HEPG2mutations
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2021
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
Diefenbach RJ et al.
Cancers, 2019
31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018
30315159 (PubMed )
Supplement: 41467_2018_6713_MOESM5_ESM.xlsx › Supplementary_Data_2
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R et al.
Plos Genetics, 2017
28542170 (PubMed )
Supplement: pgen.1006809.s013.xlsx › WGS_-_list_of_variants
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
Desai A et al.
Bmc Musculoskeletal Disorders, 2016
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