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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC22

Variant:p.K545_D546Splc

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CCDC22

NM_014008.5:p.K545_D546Splc

hg38:chrX:49249503 G>C

Associated Papers

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )

Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

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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."