Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.C540R
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PTCH1

NM_000264.5:p.C540R

Associated Papers

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.

Fofanova-Gambetti OV et al.

Hormone Research, 2009

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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."