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Additional file 1 of Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
- Publication Year :
- 2022
- Publisher :
- figshare, 2022.
-
Abstract
- Additional file 1. Table S1. Estimated pathogenic variants in KLHL40 in our local database on ACMG guidelines. Table S2. Estimated pathogenic or likely pathogenic variants in KLHL40 in Chigene database on ACMG guidelines.
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....9710fd49d448aa5d81d7a77b057d9f27
- Full Text :
- https://doi.org/10.6084/m9.figshare.19518227