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203800.G.1
Home
Subject Details
Country
Oman
HPO Terms
Retinal dystrophy
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Sex
Unknown
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015120.4:c.6064C>T
6
Alstrom Syndrome
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Remarks
3 family members
References
Patel et al, 2018
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