Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2B
Variant:p.E39*
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SH3PXD2B

NM_001017995.3:p.E39*

Associated Papers

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

Türkyilmaz A et al.

Clinical Dysmorphology, 2022

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