Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.R286C
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PNPLA6

NM_001166114.2:p.R286C

Associated Papers

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Pensato V et al.

Journal of Clinical Medicine, 2020

32028661 (PubMed )
Supplement: jcm-09-00412-s001.pdf
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