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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAR

Variant:p.P279L

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STAR

NM_000349.3:p.P279L

hg38:chr8:38144295 G>A

Associated Papers

Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Buonocore F et al.

Clinical Endocrinology, 2020

31610036 (PubMed )

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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."