Identification of a Protein-truncating Variant in SCAPER GeneCausing Syndromic form of Intellectual Disability
The present study expands the spectrum of disease-causing variants in SCAPER and will contribute to a better understanding of the genetic etiology of IDDRP.
Authors
- Mari Muurinen (ORCID: https://orcid.org/0009-0008-5595-4334)
- Safeer Ahmad (ORCID: https://orcid.org/0000-0002-1149-5665)
- Muzammil Ahmad Khan (ORCID: https://orcid.org/0000-0001-8591-0377)
- Muhammad Latif (ORCID: https://orcid.org/0000-0003-4858-3324)
- Monis Bilal Shamsi (ORCID: https://orcid.org/0000-0003-2158-6349)
- Muhammad Zeeshan Ali
- Mohammed Turki Hussain Alharthi (ORCID: https://orcid.org/0000-0002-1730-2086)
Institutions
- University of Helsinki (FI)
- Gomal University (PK)
- Taibah University (SA)
- Helsinki University Hospital (FI)
- Helsinki Children's Hospital (FI)
- Institute of Genetics (HU)
- Folkhälsans Forskningscentrum (FI)
Publication Details
- Journal
- Current Medicinal Chemistry
- Published
- 2025-03-25
- DOI
- https://doi.org/10.2174/0109298673365248250312064016
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00