Varaico: Literature-Extracted Genetic Variants

Gene:POLR1C
Variant:p.E252K
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POLR1C

NM_203290.4:p.E252K

Associated Papers

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy.

Alotaibi L et al.

Global 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."