Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.Q117*
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IRF2BPL

NM_024496.4:p.Q117*

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

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.

Heide S et al.

Neurology. Genetics, 2023

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
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