Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.F417S
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PORCN

NM_203475.3:p.F417S

Associated Papers

Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.

Costanza F et al.

Frontiers in Endocrinology, 2023

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Elhossini RM et al.

Congenital Anomalies, 2022

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Garavelli L et al.

American Journal of Medical Genetics. Part A, 2013

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