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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IMPACT

Variant:p.E15_E26delFs

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IMPACT

NM_018439.4:p.E15_E26delFs

hg38:chr18:24427926 AAATTGAAGCAATGGCAGCCATTTATGGCGAGG>A

Associated Papers

Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.

Gao C et al.

Jama Ophthalmology, 2025

40338593 (PubMed )

Supplement: jamaophthalmol-e251079-s001.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."