Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Publication Year: 2024

DOI:
10.1002/mgg3.2342

PMCID:
PMC10785556

PMID:
38284454

Journal Information

Full Title: Mol Genet Genomic Med

Abbreviation: Mol Genet Genomic Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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"data availability statement the variants described here were submitted to clinvar and can be viewed under organization id 508172 or the clinvar ids recorded in table 1 . data availability statement the variants described here were submitted to clinvar and can be viewed under organization id 508172"

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"CONFLICT OF INTEREST STATEMENT The authors declare no competing interests."

Evidence found in paper:

"FUNDING INFORMATION This work was based on the research supported, in part, by the National Research Foundation of South Africa (grant number 106948). The financial assistance of the National Research Foundation (NRF) towards this research is hereby acknowledged. This research was also supported, in part, by the South African Medical Research Council (Self‐Initiated Research Grant awarded to NC) and the National Health Laboratory Services Research Trust. The views and opinions expressed and conclusions arrived at are those of the authors and are not necessarily to be attributed to the NRF, the SAMRC or the NHLS. CS was funded by the National Heart, Lung, and Blood Institute of the National Institutes of Health (Award Number U24HL135600)."

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Last Updated: Aug 05, 2025