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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMTA1

Variant:p.Q1587*

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CAMTA1

NM_015215.4:p.Q1587*

hg38:chr1:7751268 C>T

Associated Papers

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Al-Kateb H et al.

Clinical Genetics, 2024

38044714 (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."