Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.R121Q
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MATN3

NM_002381.5:p.R121Q

Associated Papers

Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics.

Colombini A et al.

Genes, 2025

40725395 (PubMed )
Supplement: genes-16-00738-s001.zip › genes-3684846-supplementary.pdf

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

Zhang H et al.

Journal of Human Genetics, 2015

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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."