Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.D499D
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NR3C2

NM_000901.5:p.D499D

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A novel SCNN1G mutation in a PHA I infant patient correlates with nephropathy.

Yin LP et al.

Biochemical and Biophysical Research Communications, 2019

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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."