SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name P78357

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P78357 CNTP1_HUMAN lethal congenital contracture syndrome 7 p.Cys323Arg

P78357 CNTP1_HUMAN neuropathy, congenital hypomyelinating, 3 p.Pro50Gln
p.Leu212Pro
p.Arg388Pro
p.Arg714Pro
p.Arg764Cys