Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.M1I
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MC2R

NM_000529.2:p.M1I

Associated Papers

The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.

Heshmatzad K et al.

International Journal of Endocrinology, 2020

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.

Jain V et al.

European Journal of Endocrinology, 2011

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Chung TT et al.

Clinical Endocrinology, 2010

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Chan LF et al.

Hormone Research, 2008

Adrenocorticotropin resistance syndromes.

Cooray SN et al.

Endocrine Development, 2008

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.

Metherell LA et al.

Endocrine Research, 2004

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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."