Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.Q2280R
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NIPBL

NM_133433.4:p.Q2280R

Associated Papers

Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.

Tompa M et al.

International Journal of Molecular Sciences, 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."