Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.G16R
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HAP1

NM_177977.3:p.G16R

Associated Papers

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

De Jonghe J et al.

Medrxiv : the Preprint Server for Health 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."