Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASQ1

Variant:p.R16Q

Back to variants list

CASQ1

NM_001231.5:p.R16Q

hg38:chr1:160190798 G>A

Associated Papers

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26.

Lai ZH et al.

Frontiers in Neurology, 2023

37681008 (PubMed )

Supplement: Presentation_1.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."