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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIAA0753

Variant:p.R524*

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KIAA0753

NM_014804.3:p.R524*

hg38:chr17:6610136 T>A

Associated Papers

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Sabir AH et al.

Clinical Dysmorphology, 2021

34016807 (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."