Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q175H
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PTPN11

NM_002834.5:p.Q175H

Associated Papers

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Mussa A et al.

Genes, Chromosomes & Cancer, 2022

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Rydzanicz M et al.

American Journal of Medical Genetics. Part A, 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."