Varaico: Literature-Extracted Genetic Variants

Gene:POLR3B
Variant:p.V439G
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POLR3B

NM_018082.6:p.V439G

Associated Papers

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.

Ando M et al.

Annals of Clinical and Translational Neurology, 2022

35482004 (PubMed )
Supplement: ACN3-9-747-s001.pdf
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