Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.M1_A2insFs
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C6

NM_000065.5:p.M1_A2insFs

Associated Papers

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I et al.

Jimd Reports, 2017

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

Wiman A et al.

Clinical 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."