Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.W113C
Back to variants list

SIX3

NM_005413.4:p.W113C

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

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

Solomon BD et al.

American Journal of Medical Genetics. Part A, 2009

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

Domené S et al.

Human Molecular Genetics, 2008

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."