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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNPTAB

Variant:p.V1164_K1165del2

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GNPTAB

NM_024312.5:p.V1164_K1165del2

hg38:chr12:101753477 GCCTTCA>G

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."