Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.A218V
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MC2R

NM_000529.2:p.A218V

Associated Papers

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.

Bae H et al.

Annals of Pediatric Endocrinology & Metabolism, 2020

ACTH resistance: genes and mechanisms.

Meimaridou E et al.

Endocrine Development, 2013

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

Flück CE et al.

Plos One, 2011

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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."