Varaico: Literature-Extracted Genetic Variants

Gene:ZIC2
Variant:p.K312_P313insFs
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ZIC2

NM_007129.5:p.K312_P313insFs

Associated Papers

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM et al.

American Journal of Respiratory and Critical Care Medicine, 2006

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Trochet D et al.

Human Molecular Genetics, 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."