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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINH1

Variant:p.A322D

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SERPINH1

NM_001235.5:p.A322D

hg38:chr11:75571791 C>A

Associated Papers

Proteostasis regulation of GABAA receptors in neuronal function and disease.

Chen X et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

40112516 (PubMed )

Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum.

Wang YJ et al.

Elife, 2024

38963323 (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."