Varaico: Literature-Extracted Genetic Variants

Gene:MRPL3
Variant:p.S75N
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MRPL3

NM_007208.4:p.S75N

Associated Papers

Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?

Levy AM et al.

Genes, 2021

34573303 (PubMed )
Supplement: genes-12-01321-s001.zip › genes-1240846-supplementary.pdf

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together

Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.

Sun N et al.

Frontiers in Psychiatry, 2016

Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.

Guo Y et al.

Neuroscience Letters, 2012

The use of next-generation sequencing in movement disorders.

Krebs CE et al.

Frontiers in Genetics, 2012

Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.

Sundaram SK et al.

Annals of Neurology, 2011

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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."