Varaico: Literature-Extracted Genetic Variants

Gene:PMP2
Variant:p.N16I
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PMP2

NM_002677.5:p.N16I

Associated Papers

Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.

Park KS et al.

Annals of Laboratory Medicine, 2026

40958716 (PubMed )
Supplement: alm-46-1-94-supple1.xlsx › Table_S6

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

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