Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.R135_V137insFs
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SIX3

NM_005413.4:p.R135_V137insFs

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

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

Domené S et al.

Human Molecular Genetics, 2008

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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."