Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.Q654*
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PIK3R1

NM_181523.3:p.Q654*

Associated Papers

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.

Lee CL et al.

Molecular Genetics and Metabolism Reports, 2021

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

Sun L et al.

Bmc Medical Genetics, 2020

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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."