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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUX1

Variant:p.Q265H

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CUX1

NM_181552.4:p.Q265H

hg38:chr7:102170517 G>C

Associated Papers

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Oppermann H et al.

European Journal of Human Genetics : Ejhg, 2023

37644171 (PubMed )

Supplement: 41431_2023_1445_MOESM2_ESM.docx

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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."