Varaico: Literature-Extracted Genetic Variants

Gene:ABCA2
Variant:p.Q2127*
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ABCA2

NM_001606.5:p.Q2127*

Associated Papers

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Inoue Y et al.

Journal of Human Genetics, 2026

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Inoue Y et al.

Journal of Human Genetics, 2024

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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."