Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L34S
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CFTR

NM_000492.4:p.L34S

Associated Papers

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.

Hernandez-Nieto C et al.

Prenatal Diagnosis, 2020

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

Lin D et al.

Human Mutation, 2001

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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."