Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.T93M
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ATP7A

NM_000052.7:p.T93M

Associated Papers

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Westemeyer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx

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

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.

Ulloa-Aguirre A et al.

Traffic (copenhagen, Denmark), 2004

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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."