Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S18Splc
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CFTR

NM_000492.4:p.S18Splc

Associated Papers

Gene editing using gamma modified PNA: HBB gene as a model.

Eltaweel N et al.

Journal, Genetic Engineering & Biotechnology, 2025

Following the Trace of HVS II Mitochondrial Region Within the Nine Iranian Ethnic Groups Based on Genetic Population Analysis.

Shasttiri A et al.

Biochemical Genetics, 2022

Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.

Mortazavipour MM et al.

Hemoglobin, 2020

Molecular updating of β-thalassemia mutations in the Upper Egyptian population.

Jiffri EH et al.

Hemoglobin, 2010

Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.

Fiorentino F et al.

Human Reproduction (oxford, England), 2006

Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods.

Kanavakis E et al.

Molecular Human Reproduction, 1997

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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."