Varaico: Literature-Extracted Genetic Variants

Gene:LSM7
Variant:p.R69P
Back to variants list

LSM7

NM_016199.3:p.R69P

Associated Papers

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

Crespin M et al.

Hgg Advances, 2025

Progress in leukodystrophies with zebrafish.

Shih HY et al.

Development, Growth & Differentiation, 2024

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Derksen A et al.

Hgg Advances, 2021

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."