Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.P231R
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SIX3

NM_005413.4:p.P231R

Associated Papers

Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S.

Ochi H et al.

Developmental Biology, 2017

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F et al.

Journal of Medical Genetics, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII_

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Domené S et al.

Human Molecular Genetics, 2008

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.

Pasquier L et al.

Journal of Medical 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."