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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLCE1

Variant:p.I1346_L1347del2

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PLCE1

NM_016341.4:p.I1346_L1347del2

hg38:chr10:94262714 AATCCTC>A

Associated Papers

Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.

Qi Q et al.

Genes, 2020

33255631 (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."