Varaico: Literature-Extracted Genetic Variants

Gene:HSPH1
Variant:p.E474K
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HSPH1

NM_006644.4:p.E474K

Associated Papers

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

Behjati S et al.

Nature Genetics, 2014

24633157 (PubMed )
Supplement: NIHMS57096-supplement-3.xlsx › SuppTable2
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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."