Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.R504Splc
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PLS3

NM_005032.7:p.R504Splc

Associated Papers

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy.

Wadman RI et al.

Neurology. Genetics, 2020

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Kämpe AJ et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017

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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."