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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP14

Variant:p.K300_Q301delFs

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USP14

NM_005151.4:p.K300_Q301delFs

hg38:chr18:202899 CCAAA>C

Associated Papers

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.

Ebstein F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38469793 (PubMed )

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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."