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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.L1420V

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ATM

NM_000051.4:p.L1420V

hg38:chr11:108289623 C>G

Associated Papers

Genetic Background of Macular Telangiectasia Type 2.

Kunčič A et al.

International Journal of Molecular Sciences, 2025

39859398 (PubMed )

Supplement: ijms-26-00684-s001.zip › 20241229_Table_S1.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."