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604387.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Hepatic fibrosis; Hypothyroidism
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_153240.5:c.3420_3421insA
2
Nephronophthisis 3
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References
Monies et al. 2019
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