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604559.G.1
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Subject Details
Country
Lebanon
HPO Terms
Heart block
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Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_017636.3:c.1294G>A
35
Progressive Familial Heart Block, Type IB
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Remarks
Large kindred with 52 affected individuals spanning 5 generations
References
Liu et al, 2010;
de Meeus et al, 1995;
Stephan et al, 1978
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