Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.I82V
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PLPBP

NM_007198.4:p.I82V

Associated Papers

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Makhmetov S et al.

Heliyon, 2025

39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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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."