Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q255*
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PTPN11

NM_002834.5:p.Q255*

Associated Papers

Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm.

Shetty N et al.

Jcem Case Reports, 2025

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

Wen Y et al.

Bmc Medicine, 2023

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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."