Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.R400Q
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SPG7

NM_003119.4:p.R400Q

Associated Papers

ABCB1, ABCG2, ABCC1, ABCC2, and ABCC3 drug transporter polymorphisms and their impact on drug bioavailability: what is our current understanding?

Bruckmueller H et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Scarlino S et al.

International Journal of Molecular Sciences, 2020

32397312 (PubMed )
Supplement: ijms-21-03346-s001.pdf

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G et al.

Neurology, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339

P-glycoprotein: tissue distribution, substrates, and functional consequences of genetic variations.

Cascorbi I

Handbook of Experimental Pharmacology, 2011

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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."