Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.A218V
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NSDHL

NM_015922.3:p.A218V

Associated Papers

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

Bose HS et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS et al.

The New England Journal of Medicine, 1996

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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."