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Q24531212-BF256834-B2B7-43C0-986B-C6D720306BFE
Q24531212-BF256834-B2B7-43C0-986B-C6D720306BFE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24531212-BF256834-B2B7-43C0-986B-C6D720306BFE
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
P2860
Q24531212-BF256834-B2B7-43C0-986B-C6D720306BFE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24531212-BF256834-B2B7-43C0-986B-C6D720306BFE
rank
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type
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wasDerivedFrom
963563194b726625d68b179d461a0c2a2e04639f
P2860
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease