Varaico: Literature-Extracted Genetic Variants

Gene:POLR3B
Variant:p.D812N
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POLR3B

NM_018082.6:p.D812N

Associated Papers

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Mirchi A et al.

Journal of Medical Genetics, 2023

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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."