Varaico: Literature-Extracted Genetic Variants

Gene:CAPRIN1
Variant:p.Q582*
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CAPRIN1

NM_005898.5:p.Q582*

Associated Papers

Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.

Conteduca G et al.

Stem Cell Research, 2025

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Pavinato L et al.

Brain : a Journal of Neurology, 2023

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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."