Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.R72Q
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EXOSC3

NM_016042.4:p.R72Q

Associated Papers

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Kalkan Uçar S et al.

Jimd Reports, 2022

Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia.

Brunner C et al.

Journal of Clinical Immunology, 2002

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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."