Varaico: Literature-Extracted Genetic Variants

Gene:ZIC2
Variant:p.H300R
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ZIC2

NM_007129.5:p.H300R

Associated Papers

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.

Savastano CP et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014

Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.

Roessler E et al.

Plos One, 2012

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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."