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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H6PD

Variant:p.Y141*

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H6PD

NM_004285.4:p.Y141*

hg38:chr1:9245357 C>A

Associated Papers

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Vermudez SAD et al.

Neuroscience, 2026

41621618 (PubMed )

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Vermudez SAD et al.

Biorxiv : the Preprint Server for Biology, 2025

40463103 (PubMed )

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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."