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Q30403401-A8B3CF3B-4AB0-4D51-A6CD-BFEFEE57AA95
Q30403401-A8B3CF3B-4AB0-4D51-A6CD-BFEFEE57AA95
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http://www.wikidata.org/entity/statement/Q30403401-A8B3CF3B-4AB0-4D51-A6CD-BFEFEE57AA95
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
P2860
Q30403401-A8B3CF3B-4AB0-4D51-A6CD-BFEFEE57AA95
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30403401-A8B3CF3B-4AB0-4D51-A6CD-BFEFEE57AA95
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wasDerivedFrom
9a4fa37ee932a48ea3ef5c44442bb0d397661b19
P2860
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes