Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.D104G
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SIX3

NM_005413.4:p.D104G

Associated Papers

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

Lacbawan F et al.

Journal of Medical Genetics, 2009

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

Domené S et al.

Human Molecular Genetics, 2008

SIX3 mutations with holoprosencephaly.

Ribeiro LA et al.

American Journal of Medical Genetics. Part A, 2006

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Cohen MM

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006

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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."