Varaico: Literature-Extracted Genetic Variants

Gene:RPS27
Variant:p.S27C
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RPS27

NM_001030.6:p.S27C

Associated Papers

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Wasserstein MP et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Cyclic-nucleotide-gated channels: pore topology in desensitizing E19A mutants.

Roncaglia P et al.

Pflugers Archiv : European Journal of Physiology, 2001

The properties of cysteine mutants in the pore region of cyclic-nucleotide-gated channels.

Becchetti A et al.

Pflugers Archiv : European Journal of Physiology, 1999

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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."