Varaico: Literature-Extracted Genetic Variants

Gene:PROSER1
Variant:p.T612fs
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PROSER1

NM_025138.5:p.T612fs

Associated Papers

A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.

Salah A et al.

Clinical Genetics, 2022

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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."