Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.R986Q
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ATP7A

NM_000052.7:p.R986Q

Associated Papers

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

Olsen CG et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).

Kaler SG et al.

Molecular Genetics and Metabolism Reports, 2020

Changes in body weight and height in survivors of Menkes disease.

Gu YH et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014

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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."