Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L392L
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PSEN1

NM_000021.4:p.L392L

Associated Papers

Ocular and neurological manifestations of the FDXR-related disorder.

Kaler A et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

Mohsen AW et al.

Biochemistry, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."