Gene table: search width pubmed_id = 19646678


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Spinal muscular atrophy with pontocerebellar hypoplasia - (AR)
12.100
19646678
VRK1 (14q32)
Vaccinia related kinase 1
* Pontocerebellar hypoplasia type 1 - PCH1
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge
* Spinal muscular atrophy, distal, autosomal recessive - DSMA