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1 protein found in SwissVar (0 variants)

with gene/protein name O94827

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)
O94827 PKHG5_HUMAN distal spinal muscular atrophy, autosomal recessive, 4
O94827 PKHG5_HUMAN charcot-marie-tooth disease, recessive, intermediate type, c