Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIX2

Variant:p.E125K

Back to variants list

SIX2

NM_016932.5:p.E125K

hg38:chr2:45008738 C>T

Associated Papers

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E et al.

Journal of Medical Genetics, 2022

33436522 (PubMed )

Supplement: jmedgenet-2020-107459supp001.pdf

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."