A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family.

Authors:
Wang L; Zhang J; Lu L; Ren J; Zhang Y and 7 more

Journal:
Int J Genomics

Publication Year: 2024

DOI:
10.1155/2024/2277956

PMCID:
PMC10896648

PMID:
38410787

Journal Information

Full Title: Int J Genomics

Abbreviation: Int J Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Conflicts of Interest The authors declare that they have no conflict of interest."

Evidence found in paper:

"This study was supported by the National Natural Science Foundation of China (81970172 and 8170011339) and the Shanxi Provincial Basic Research Program (20210302123295). We would like to thank the patient and his family for participating in this study. Thanks are due to my classmates for their help and thanks are due to my teachers for their support and guidance."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025