Varaico: Literature-Extracted Genetic Variants

Gene:PDK3
Variant:p.R310K
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PDK3

NM_005391.5:p.R310K

Associated Papers

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

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx

Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Sun B et al.

Acta Neurologica Belgica, 2022

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