Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L262R
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PNPLA2

NM_020376.4:p.L262R

Associated Papers

Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.

Jiang N et al.

Frontiers in Neurology, 2023

36846110 (PubMed )
Supplement: Data_Sheet_1.PDF
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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."