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The homozygous variant c.797G>A/p.(Cys266Tyr) inPISDis associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Publication with shared reference
10.1002/humu.23693
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Publications
The homozygous variant c.797G>A/p.(Cys266Tyr) inPISDis associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Publication with shared reference
10.1002/humu.23693
Publications with shared reference:
The homozygous variant c.797G>A/p.(Cys266Tyr) in
PISD
is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
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