Varaico: Literature-Extracted Genetic Variants

Gene:POC1A
Variant:p.K93fs
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POC1A

NM_015426.5:p.K93fs

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

Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.

Perge K et al.

European Journal of Endocrinology, 2024

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