Varaico: Literature-Extracted Genetic Variants

Gene:USP44
Variant:p.I296delFs
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USP44

NM_032147.5:p.I296delFs

Associated Papers

CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.

Koprulu M et al.

European Journal of Medical Genetics, 2021

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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."