Varaico: Literature-Extracted Genetic Variants

Gene:PRPF4
Variant:p.K37K
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PRPF4

NM_001244926.2:p.K37K

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

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

Benoit-Pilven C et al.

Plos One, 2020

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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."