Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.I1024K
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ATP7A

NM_000052.7:p.I1024K

Associated Papers

Targeted next generation sequencing for newborn screening of Menkes disease.

Parad RB et al.

Molecular Genetics and Metabolism Reports, 2020

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."