Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.R164*
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ATP2A1

NM_004320.6:p.R164*

Associated Papers

Case report: Revealing the rare-a Brody Disease patient from Turkey expanding the phenotype.

Şahin A et al.

Frontiers in Genetics, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

Molenaar JP et al.

Brain : a Journal of Neurology, 2020

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
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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."