Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.K154fs
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PURA

NM_005859.5:p.K154fs

Associated Papers

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Sharma S et al.

Clinical Genetics, 2021

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE et al.

Npj Genomic Medicine, 2018

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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."