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Case-report mutation extractor
Select a folder of rare-disease case-report PDFs. Each paper is read and the disease, responsible gene, identified mutation and reference are extracted into the table below. Papers that do not report a specific mutation — or report a mutation only in a non-coding region (intron, splice site, UTR, promoter) — are listed separately with the reason.
Research / literature-curation tool. It extracts findings already published in the uploaded papers and is not a medical device or clinical-decision-support system. It does not provide patient-specific advice. Uploaded files are processed in memory and are not stored. Always verify extracted variants against the source paper.
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