Varaico: Literature-Extracted Genetic Variants

Gene:STX4
Variant:p.M159I
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STX4

NM_001272095.1:p.M159I

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

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Alhendi ASN et al.

Journal of Medical Genetics, 2022

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