Varaico: Literature-Extracted Genetic Variants

Gene:C12orf57
Variant:p.R40_M47del8
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C12orf57

NM_138425.4:p.R40_M47del8

Associated Papers

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.

Schuermans N et al.

Neurology. Genetics, 2023

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

Naesens L et al.

Journal of Clinical Immunology, 2022

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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."