Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SATB2

Variant:p.P287S

Back to variants list

SATB2

NM_001172509.2:p.P287S

hg38:chr2:199349015 G>A

Associated Papers

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Rekerle L et al.

American Journal of Human Genetics, 2026

41443197 (PubMed )

Supplement: mmc3.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."