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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC1A5

Variant:p.L319_L321Fs

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SLC1A5

NM_005628.3:p.L319_L321Fs

hg38:chr19:46778770 CAGTACCAG>T

Associated Papers

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.

Rasmussen DK et al.

Orphanet Journal of Rare Diseases, 2025

40448196 (PubMed )

Supplement: 13023_2025_3792_MOESM1_ESM.pdf

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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."