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276300.1.1
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Subject Details
Country
Syria
HPO Terms
Rhabdomyosarcoma; Colon cancer
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000535.7:c.219T>A
2
Mismatch Repair Cancer Syndrome 1
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References
Al-Gazali and Ali, 2010
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