Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.P234L
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MC2R

NM_000529.2:p.P234L

Associated Papers

Antenatal diagnosis and early postnatal management of a neonate with type 1 familial glucocorticoid deficiency.

Chougula PV et al.

Bmj Case Reports, 2025

Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.

Gao J et al.

Frontiers in Pediatrics, 2020

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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."