Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.R1021fs
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PNPLA6

NM_001166114.2:p.R1021fs

Associated Papers

PNPLA6-Related Disorder with Levodopa-Responsive Parkinsonism.

Kazanci S et al.

Movement Disorders Clinical Practice, 2023

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel RB et al.

Journal of Medical Genetics, 2015

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Yoon G et al.

Neurogenetics, 2013

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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."