Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.R1335_N1336Splc
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ATP7A

NM_000052.7:p.R1335_N1336Splc

Associated Papers

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.

Kim D et al.

Stem Cell Research & Therapy, 2015

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Kim JH et al.

Metabolic Brain Disease, 2015

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

Splice site mutations in the ATP7A gene.

Skjørringe T et al.

Plos One, 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."