Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.K506_N507Splc
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CAT

NM_001752.4:p.K506_N507Splc

Associated Papers

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

King RA et al.

American Journal of Human Genetics, 2003

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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."