Varaico: Literature-Extracted Genetic Variants

Gene:AMFR
Variant:p.W85*
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AMFR

NM_001144.6:p.W85*

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

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

Deng R et al.

Acta Neuropathologica, 2023

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