Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.G22W
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PMEL

NM_001384361.1:p.G22W

Associated Papers

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.

Perge K et al.

Reviews in Endocrine & Metabolic Disorders, 2024

39017987 (PubMed )
Supplement: 11154_2024_9894_MOESM1_ESM.xlsx › Tabelle1
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