Varaico: Literature-Extracted Genetic Variants

Gene:ZC3H12D
Variant:p.M1V
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ZC3H12D

NM_207360.3:p.M1V

Associated Papers

Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.

Zamiri M et al.

The British Journal of Dermatology, 2019

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

de Oliveira-Junior EB et al.

Pediatric Blood & Cancer, 2015

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C et al.

Medicine, 2010

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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."