Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.S91*
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C6

NM_000065.5:p.S91*

Associated Papers

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Aquaron R et al.

Journal of Human Genetics, 2007

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.

Ikinciogullari A et al.

European Journal of Pediatrics, 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."