Varaico: Literature-Extracted Genetic Variants

Gene:ZIC2
Variant:p.P163S
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ZIC2

NM_007129.5:p.P163S

Associated Papers

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

Roessler E et al.

Plos One, 2012

22859937 (PubMed )
Supplement: pone.0039026.s005.doc

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Nelis E et al.

Neurology, 2002

Holoprosencephaly: molecular study of a California population.

Nanni L et al.

American Journal of Medical Genetics, 2000

Mutations in holoprosencephaly.

Wallis D et al.

Human Mutation, 2000

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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."