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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSNK2B

Variant:p.Q68*

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CSNK2B

NM_001320.7:p.Q68*

hg38:chr6:31668565 C>T

Associated Papers

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Hiatt SM et al.

Genome Research, 2024

39299904 (PubMed )

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Hiatt SM et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585854 (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."