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118450.G.1
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Subject Details
Country
Oman
HPO Terms
Hepatic Failure
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000214.2:c.235C>T
Alagille Syndrome 1
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Remarks
Family with unknown number of members carrying this mutation.
References
Al-Gazali and Ali, 2010
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