Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.R83H
Back to variants list

LMOD3

NM_198271.5:p.R83H

Associated Papers

Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci.

Ambati A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Kleine-Levin syndrome is associated with LMOD3 variants.

Al Shareef SM et al.

Journal of Sleep Research, 2019

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Wang Y et al.

Frontiers in Genetics, 2019

SCN8A mutation in a child presenting with seizures and developmental delays.

Malcolmson J et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_recessive.c
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."