Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2B
Variant:p.R84*
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SH3PXD2B

NM_001017995.3:p.R84*

Associated Papers

The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.

Massadeh S et al.

Genes, 2022

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Türkyilmaz A et al.

Clinical Dysmorphology, 2022

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

Ratukondla B et al.

Journal of Glaucoma, 2020

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