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Scenario 2 - Genetic Analysis Case Study on MAPK1 gene

Scenario 2: Genetic Analysis Case Study on MAPK1 gene

A Girl Diagnosed with Noonan-like Syndrome

A girl was diagnosed affected by a Noonan-like syndrome, but she was negative after analysis of an extended panel for Rasopathies. Following Whole Exome Sequencing (WES), a de novo likely pathogenic mutation was found in the MAPK1 gene.

Research Questions

Question 1: Mutation Prevalence

Are there any other individuals with the same mutation or allelic variant?

Work in Progress: This query is still under development and may not yet provide complete or accurate results. It serves as a foundation for further refinement and enhancement. 
:language: sparql

Question 2: Phenotype and Natural History

What is their phenotype and natural history of the disease?

Work in Progress: This query is still under development and may not yet provide complete or accurate results. It serves as a foundation for further refinement and enhancement. 
:language: sparql

Question 3: Variant Frequency in Populations

What is the variant frequency across different populations?

Work in Progress: This query is still under development and may not yet provide complete or accurate results. It serves as a foundation for further refinement and enhancement. 
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