Associated Papers
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
40002721 (PubMed )
Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_2-xml.xlsx › AM_enzymopaties
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ et al.
Nature Communications, 2023
37349293 (PubMed )
Supplement: 41467_2023_39272_MOESM1_ESM.pdf
Functional genomics of human clear cell sarcoma: genomic, transcriptomic and chemical biology landscape for clear cell sarcoma.
Rasmussen SV et al.
British Journal of Cancer, 2023
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
36818284 (PubMed )
Supplement: mmc2.xlsx › HS-PSS
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G et al.
Nature Communications, 2022
35110524 (PubMed )
Supplement: 41467_2022_28167_MOESM3_ESM.xlsx › SupData_6__Dorsalgia_coding
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
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