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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POF1B

Variant:p.Q197fs

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POF1B

NM_024921.4:p.Q197fs

hg38:chrX:85345994 CTG>N

Associated Papers

CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.

Ruiz I et al.

Genes, 2024

39596625 (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."