Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.V19M
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PRPF3

NM_004698.4:p.V19M

Associated Papers

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

Benoit-Pilven C et al.

Plos One, 2020

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Putoux A et al.

Clinical Genetics, 2016

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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."