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249270.3
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Subject Details
Country
Lebanon
HPO Terms
Diabetes Mellitus; Thiamine-responsive megaloblastic anemia; Bilateral sensorineural hearing impairment
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006996.3:c.725delC
2
Thiamine-Responsive Megaloblastic Anemia Syndrome
NM_006996.3:c.1223+1G>A
2
Thiamine-Responsive Megaloblastic Anemia Syndrome
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References
Raz et al. 2000
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