Varaico: Literature-Extracted Genetic Variants

Gene:CALCR
Variant:p.V265V
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CALCR

NM_001164737.3:p.V265V

Associated Papers

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

Halperin D et al.

Clinical Genetics, 2022

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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."