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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR1A

Variant:p.E272delFs

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POLR1A

NM_015425.6:p.E272delFs

hg38:chr2:86083082 CTT>C

Associated Papers

Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases.

Wang G et al.

Prenatal Diagnosis, 2025

40696565 (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."