Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.R7delFs
Back to variants list

SIGMAR1

NM_005866.4:p.R7delFs

Associated Papers

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Kaplanis J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
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."