Varaico: Literature-Extracted Genetic Variants

Gene:POLR1C
Variant:p.D41N
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POLR1C

NM_203290.4:p.D41N

Associated Papers

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Derksen A et al.

Hgg Advances, 2021

35047835 (PubMed )
Supplement: mmc2.pdf
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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."