Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.Q59L
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AR

NM_000044.6:p.Q59L

Associated Papers

Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Muendlein A et al.

Scientific Reports, 2021

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.

Montenegro LR et al.

Clinics (sao Paulo, Brazil), 2021

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
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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."