Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.W305*
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PORCN

NM_203475.3:p.W305*

Associated Papers

[Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].

Koutra E et al.

Dermatologie (heidelberg, Germany), 2024

Mutation update for the PORCN gene.

Lombardi MP et al.

Human Mutation, 2011

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