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Q28281394-63B569A0-F1BE-423B-AE42-164D16590C40
Q28281394-63B569A0-F1BE-423B-AE42-164D16590C40
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28281394-63B569A0-F1BE-423B-AE42-164D16590C40
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
P2860
Q28281394-63B569A0-F1BE-423B-AE42-164D16590C40
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28281394-63B569A0-F1BE-423B-AE42-164D16590C40
rank
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Statement
wasDerivedFrom
bfc7df7d9dbde863364570f76e986d6446b8e26f
P2860
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.