Varaico: Literature-Extracted Genetic Variants

Gene:CAPRIN1
Variant:p.Q446H
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CAPRIN1

NM_005898.5:p.Q446H

Associated Papers

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Costain G et al.

Jama Network Open, 2020

32960281 (PubMed )
Supplement: jamanetwopen-e2018109-s001.pdf
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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."