遇见数据集

Experts in CMT: CMT Gene Browser

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Zenodo2026-08-16 更新2026-08-20 收录
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A curated, gene-resolved dataset of the genes and subtypes associated with Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Version 1.0.3 contains 159 genes and 188 subtype rows, including 19 candidate gene associations, with curated nomenclature, classifications, ClinGen gene-disease validity (CMT GCEP) and dosage sensitivity, Genomics England PanelApp 846 ratings, and links to authoritative external resources. It is the dataset behind the CMT Gene Browser at https://expertsincmt.org. The Experts in CMT curation is licensed CC BY 4.0; referenced third-party content remains under its respective terms (see LICENSE.txt).

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Zenodo
创建时间:
2026-08-16
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