Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L32R
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CFTR

NM_000492.4:p.L32R

Associated Papers

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.

Gariballa N et al.

Traffic (copenhagen, Denmark), 2024

Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.

Cheng H et al.

Journal of Assisted Reproduction and Genetics, 2022

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Gariballa N et al.

Frontiers in Molecular Biosciences, 2022

A review of cystic fibrosis: Basic and clinical aspects.

Chen Q et al.

Animal Models and Experimental Medicine, 2021

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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."