Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.Y193*
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MC2R

NM_000529.2:p.Y193*

Associated Papers

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Lin L et al.

Clinical Endocrinology, 2007

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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."