Varaico: Literature-Extracted Genetic Variants

Gene:PHIP
Variant:p.I1268fs
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PHIP

NM_017934.7:p.I1268fs

Associated Papers

PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity.

Tirado-Class N et al.

Cold Spring Harbor Molecular Case Studies, 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."