Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.C74Y
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EXOSC3

NM_016042.4:p.C74Y

Associated Papers

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.

Cotti Piccinelli S et al.

Frontiers in Neurology, 2019

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

Giliani S et al.

Immunological Reviews, 2005

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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."