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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCNT

Variant:p.R1164_L1165del2

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PCNT

NM_006031.6:p.R1164_L1165del2

hg38:chr21:46388766 CAGGCTG>C

Associated Papers

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

Kessler L et al.

Clinical Genetics, 2025

39663844 (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."