Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.E147del1
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CLDN19

NM_148960.3:p.E147del1

Associated Papers

Acquired macular atrophy leads to the correct diagnosis of CLDN19-related disease in a child with nephropathy.

Khan AO

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

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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."