A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.
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
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"CONFLICT OF INTEREST STATEMENT We declare that we have no conflict of interests."
"FUNDING INFORMATION The authors acknowledge the support from all recruited families for their invaluable cooperation and participation and the financial support from the National Natural Science Foundation of China (Nos. 82160214, 81960192), the Natural Science Foundation of Gansu Province (20JR5RA334, 21JR1RA039, 21JR11RA119, 22JR5RA652), the Cuiying Scientifc and Technological Innovation Program of Lanzhou University Second Hospital (Nos. CY2017‐MS18, CY2022‐MS‐A16), Innovation Fund for colleges and Universities in Gansu Province (2020B‐043), the Research Fund for Doctoral Tutor of Lanzhou University Second Hospital (No. bdkyjj‐02) and Gansu Provincial Hospital Intra‐hospital Research Fund Project‐Master Tutor Cultivation Plan (22GSSYB‐1)."
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Last Updated: Aug 05, 2025