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Q30886525-0787D9DF-ECBC-49D9-941C-B8CF56E66FE9
Q30886525-0787D9DF-ECBC-49D9-941C-B8CF56E66FE9
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Statement
http://www.wikidata.org/entity/statement/Q30886525-0787D9DF-ECBC-49D9-941C-B8CF56E66FE9
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
P2860
Q30886525-0787D9DF-ECBC-49D9-941C-B8CF56E66FE9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30886525-0787D9DF-ECBC-49D9-941C-B8CF56E66FE9
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wasDerivedFrom
e0e6abd5c83a1e25a3dcb8565ab421656ced5f70
P2860
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.