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Q52842500-51590E2F-835B-4B22-A1C6-53FD432A23E5
Q52842500-51590E2F-835B-4B22-A1C6-53FD432A23E5
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Statement
http://www.wikidata.org/entity/statement/Q52842500-51590E2F-835B-4B22-A1C6-53FD432A23E5
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
P2860
Q52842500-51590E2F-835B-4B22-A1C6-53FD432A23E5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52842500-51590E2F-835B-4B22-A1C6-53FD432A23E5
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wasDerivedFrom
9423398cbdb1a65ecc0d5c58873969279ab513cd
P2860
The minimal domain of adipose triglyceride lipase (ATGL) ranges until leucine 254 and can be activated and inhibited by CGI-58 and G0S2, respectively.