Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2B
Variant:p.L298delFs
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SH3PXD2B

NM_001017995.3:p.L298delFs

Associated Papers

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

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Zrhidri A et al.

Gene, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."