Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M2L
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SDS

NM_006843.3:p.M2L

Associated Papers

Genetic polymorphisms in bone morphogenetic protein receptor type IA gene predisposes individuals to ossification of the posterior longitudinal ligament of the cervical spine via the smad signaling pathway.

Wang H et al.

Bmc Musculoskeletal Disorders, 2018

Activity-Based Profiling Reveals a Regulatory Link between Oxidative Stress and Protein Arginine Phosphorylation.

Fuhrmann J et al.

Cell Chemical Biology, 2016

Mapping structural determinants within third intracellular loop that direct signaling specificity of type 1 corticotropin-releasing hormone receptor.

Punn A et al.

The Journal of Biological Chemistry, 2012

Some cis- and trans-acting mutants for splicing target pre-mRNA to the cytoplasm.

Legrain P et al.

Cell, 1989

Characterization of mutations in Gaucher patients by cDNA cloning.

Wigderson M et al.

American Journal of Human Genetics, 1989

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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."