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1
Q33553088-A3E2D88E-6BAE-4446-B161-112C0DF264D5
Q33553088-A3E2D88E-6BAE-4446-B161-112C0DF264D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33553088-A3E2D88E-6BAE-4446-B161-112C0DF264D5
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
P2860
Q33553088-A3E2D88E-6BAE-4446-B161-112C0DF264D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33553088-A3E2D88E-6BAE-4446-B161-112C0DF264D5
rank
NormalRank
type
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Statement
wasDerivedFrom
a58935b659e533ea82a7e377ef411f42a4acd728
P2860
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog