Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.M22fs
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POMC

NM_000939.4:p.M22fs

Associated Papers

Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.

Graves LE et al.

Journal of Paediatrics and Child Health, 2021

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.

Çetinkaya S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

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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."