Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.L225R
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MC2R

NM_000529.2:p.L225R

Associated Papers

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Çamtosun E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

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

Heshmatzad K et al.

International Journal of Endocrinology, 2020

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

A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.

Akin MA et al.

Neonatology, 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."