Varaico: Literature-Extracted Genetic Variants

Gene:PRDM13
Variant:p.L541P
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PRDM13

NM_021620.4:p.L541P

Associated Papers

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

Burnight ER et al.

Human Molecular Genetics, 2024

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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."