Varaico: Literature-Extracted Genetic Variants

Gene:H3-3A
Variant:p.G13R
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H3-3A

NM_002107.7:p.G13R

Associated Papers

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Layo-Carris DE et al.

European Journal of Human Genetics : Ejhg, 2024

Composite pheochromocytoma/paraganglioma-ganglioneuroma: analysis of SDH and ATRX status, and identification of frequent HRAS and BRAF mutations.

Chen J et al.

Endocrine Connections, 2021

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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."