Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.A302V
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MKRN3

NM_005664.4:p.A302V

Associated Papers

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

Jin YY et al.

World Journal of Pediatrics : Wjp, 2026

Genetic causes of central precocious puberty.

Tajima T

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.

Seraphim CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."