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spinal muscular atrophy, distal
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ATP7A
Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase.
Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease
Mutation spectrum of ATP7A, the gene defective in Menkes disease
Molecular genetics and pathophysiology of Menkes disease
PLEKHG5
Establishment of epithelial polarity--GEF who's minding the GAP?
DNAJB2
Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons
TRPV4
From worm to man: three subfamilies of TRP channels
TRPV4
Clinical Trials
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Definition
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Pathways
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Protein processing in endoplasmic reticulum
Homo sapiens (human)
one gene