Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.A136insFs
Back to variants list

SIX3

NM_005413.4:p.A136insFs

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."