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GIBBS, RICHARD
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GIBBS, RICHARD
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Concept
Cerebellar Diseases
Academic Article
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Academic Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
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Cerebellar Diseases