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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIX3

Variant:p.A240T

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SIX3

NM_005413.4:p.A240T

hg38:chr2:44942822 G>A

Associated Papers

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

Domené S et al.

Human Molecular Genetics, 2008

18791198 (PubMed )

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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."