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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS9

Variant:p.R109H

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RPS9

NM_001013.4:p.R109H

hg38:chr19:54206381 G>A

Associated Papers

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Thiffault I et al.

Nature Communications, 2015

26151409 (PubMed )

Supplement: ncomms8623-s1.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."