Varaico: Literature-Extracted Genetic Variants

Gene:CACNB4
Variant:p.N134D
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CACNB4

NM_000726.5:p.N134D

Associated Papers

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol K et al.

American Journal of Human Genetics, 2019

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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."