Varaico: Literature-Extracted Genetic Variants

Gene:HMGA2
Variant:p.K66_K67Splc
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HMGA2

NM_003483.6:p.K66_K67Splc

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

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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."