Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITPR1

Variant:p.A575_K576del2

Back to variants list

ITPR1

NM_001378452.1:p.A575_K576del2

hg38:chr3:4667385 AGCCAAG>A

Associated Papers

Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants.

Huang L et al.

Frontiers in Genetics, 2023

36816037 (PubMed )

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."