Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.L46fs
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DHCR7

NM_001360.3:p.L46fs

Associated Papers

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.

Abuduxikuer K et al.

Frontiers in Endocrinology, 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."