Gene table: search width pubmed_id = 40327962


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

protein
All allelic disease phenotypes - locus/disease symbols
Congenital myopathy with severe hypotonia and axial weakness - (AR)
17.41
40327962
RFC4 (3q27.3)
Replication factor C, subunit 4
* Congenital myopathy with severe hypotonia and axial weakness