Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S415_K418del0
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PTCH1

NM_000264.5:p.S415_K418del0

Associated Papers

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.

Gabrikova D et al.

Urolithiasis, 2015

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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."