Varaico: Literature-Extracted Genetic Variants

Gene:HELZ
Variant:p.I1108V
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HELZ

NM_014877.4:p.I1108V

Associated Papers

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Hengel H et al.

American Journal of Human Genetics, 2021

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E et al.

Neuron, 2015

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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."