Varaico: Literature-Extracted Genetic Variants

Gene:CYP51A1
Variant:p.M329insFs
Back to variants list

CYP51A1

NM_000786.4:p.M329insFs

Associated Papers

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

Alcántara-Ortigoza MA et al.

Genetic Testing, 2008

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."