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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC2

Variant:p.S142_A143Splc

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EXOSC2

NM_014285.7:p.S142_A143Splc

hg38:chr9:130699396 T>G

Associated Papers

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )

Supplement: 12886_2022_2532_MOESM6_ESM.xlsx › SelectedGene

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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."