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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.E3939_R3941insFs

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USH2A

NM_206933.4:p.E3939_R3941insFs

hg38:chr1:215728273 C>CCGATATT

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

37217489 (PubMed )

Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1

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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."