Varaico: Literature-Extracted Genetic Variants

Gene:CA6
Variant:p.Q18*
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CA6

NM_001215.4:p.Q18*

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

An update on electrophoretic and chromatographic methods in the diagnosis of hemoglobinopathies.

Basset P et al.

Journal of Chromatography, 1982

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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."