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Data and code for: The number of autism-associated variants in ClinVar is not well defined: query dependence and condition-annotation gaps in a 34-gene synaptic panel

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Zenodo2026-07-05 更新2026-08-01 收录
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Data and analysis code supporting the manuscript "The number of autism-associated variants in ClinVar is not well defined: query dependence and condition-annotation gaps in a 34-gene synaptic panel." The deposit contains per-gene ClinVar counts (structured MedGen concept vs free-text vs broad queries, and "not provided"), the conditions captured by the free-text query, a merged SFARI + ClinVar table, and the Python scripts (NCBI E-utilities) that reproduce them. ClinVar was queried on 5 July 2026; SFARI Gene release 1 May 2026. See README.md for file descriptions and reproduction instructions. Code is released under the MIT License; data under CC-BY 4.0.

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Zenodo
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2026-07-05
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