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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR2A

Variant:p.L438del1

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POLR2A

NM_000937.5:p.L438del1

hg38:chr17:7498186 CCTT>C

Associated Papers

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.

Hansen AW et al.

Hgg Advances, 2021

33665635 (PubMed )

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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."