Varaico: Literature-Extracted Genetic Variants

Gene:ZIC2
Variant:p.H353H
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ZIC2

NM_007129.5:p.H353H

Associated Papers

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

de Castro VF et al.

Molecular Syndromology, 2021

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1

Genetics of human neural tube defects.

Greene ND et al.

Human Molecular Genetics, 2009

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E et al.

Human Mutation, 2009

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.

Klootwijk R et al.

American Journal of Medical Genetics. Part A, 2004

No association of the polyhistidine tract polymorphism of the ZIC2 gene with neural tube defects in a South American (ECLAMC) population.

Costa-Lima MA et al.

Molecular Medicine Reports, 0

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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."