Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.T16T
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ABCA4

NM_000350.3:p.T16T

Associated Papers

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

Aguirre-Lamban J et al.

Investigative Ophthalmology & Visual Science, 2011

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.

Zhang Q et al.

Human Genetics, 2005

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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."