Varaico: Literature-Extracted Genetic Variants

Gene:ASH2L
Variant:p.I482V
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ASH2L

NM_001105214.2:p.I482V

Associated Papers

Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.

Bozkurt-Yozgatli T et al.

Bmc Medical Genomics, 2024

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."