Varaico: Literature-Extracted Genetic Variants

Gene:EPHB6
Variant:p.A219V
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EPHB6

NM_004445.6:p.A219V

Associated Papers

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Savino M et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Brancaleoni V et al.

Human Genetics, 2010

Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.

Martinez di Montemuros F et al.

Human Genetics, 2004

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

Cappellini MD et al.

Human Mutation, 2001

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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."