Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G5
Variant:p.Q128delFs
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PLA2G5

NM_000929.3:p.Q128delFs

Associated Papers

Suspected case of benign familial fleck retina with functional loss.

Constable PA et al.

Clinical Case Reports, 2023

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

Sergouniotis PI et al.

American Journal of Human Genetics, 2011

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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."