Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q500_R501delFs
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PTPN11

NM_002834.5:p.Q500_R501delFs

Associated Papers

Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.

Zhu X et al.

Prenatal Diagnosis, 2025

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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."