Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A300S
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CFTR

NM_000492.4:p.A300S

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

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Desviat LR et al.

European Journal of Human Genetics : Ejhg, 1999

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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."