Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1549
Variant:p.H1562Q
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KIAA1549

NM_001164665.2:p.H1562Q

Associated Papers

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

de Bruijn SE et al.

Journal of Medical Genetics, 2018

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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."