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NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
Known as:
HSN2C
National Institutes of Health
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1 relation
Autosomal recessive inheritance
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2017
2017
Multigeneration family with dominant SPG30 hereditary spastic paraplegia
R. Roda
,
A. Schindler
,
C. Blackstone
Annals of Clinical and Translational Neurology
2017
Corpus ID: 13150269
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations…
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