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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC1A3

Variant:p.I144_I145del0

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SLC1A3

NM_004172.5:p.I144_I145del0

hg38:chr5:36671133 GTCATCA>G

Associated Papers

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Xu P et al.

Human Genetics, 2023

36964785 (PubMed )

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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."