Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC1
Variant:p.L14P
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EXOSC1

NM_016046.5:p.L14P

Associated Papers

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT et al.

American Journal of Human Genetics, 2018

29727687 (PubMed )
Supplement: mmc4.pdf
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