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163950.4
Home
Subject Details
Country
Morocco
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001330437.1:c.922A>G
1
Noonan Syndrome 1
Download Table
References
Kruszka et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
163950.3
Morocco
Male
163950.5
Morocco
Abnormal facial shape; Global developmental delay; Failure to thrive; Pulmonic stenosis
Male
No
Yes
de novo mutation
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