Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE22
Variant:p.G74_S87delFs
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BHLHE22

NM_152414.5:p.G74_S87delFs

Associated Papers

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Le C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."