Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.P58S
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VSX1

NM_014588.6:p.P58S

Associated Papers

Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants.

Kütükçüler N et al.

Turk Pediatri Arsivi, 2020

The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.

Lai IN et al.

Molecular Vision, 2010

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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."