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249270.1
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Subject Details
Country
Lebanon
HPO Terms
Thiamine-responsive megaloblastic anemia; Diabetes Mellitus; Bilateral sensorineural hearing impairment
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006996.3:c.454_458delGGCATinsTA
2
Thiamine-Responsive Megaloblastic Anemia Syndrome
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References
Bergmann et al. 2009
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