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A 15 bp non-canonical splice-site deletion in ABCA4 linked with retinitis pigmentosa and myopia: insights into splicing defects and phenotypic variability

Crossref DOI link: https://doi.org/10.1007/s11033-025-11032-x

Published Online: 2025-09-26

Published Print: 2025-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Vanita, Vanita https://orcid.org/0000-0003-2251-6641
Goyal, Shiwali

Singh, Indu R.
Funding

Funding for this research was provided by:

Department of Biotechnology, Ministry of Science and Technology, India (BT/IN/German/13/VK/2010 IND 10/036)
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Article History

Received: 11 July 2025

Accepted: 8 September 2025

First Online: 26 September 2025

Declarations

:

: The authors have no relevant financial or non-financial interests to disclose.

: The study adhered to the principles of the Declaration of Helsinki and received approval from the Institutional Ethics Committee (IEC) at the Guru Nanak Dev University (GNDU), Amritsar, Punjab, India (IRB # 1070HG/24.6.2015).

: Informed consent was obtained from all the participants included in the study.

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