Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.V187fs
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MC2R

NM_000529.2:p.V187fs

Associated Papers

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.

Kardas Yildiz A et al.

Molecular Syndromology, 2024

Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

Seven Menevse T et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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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."