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Q42428343-ABBAE095-8950-4B01-AF36-506F94E9343E
Q42428343-ABBAE095-8950-4B01-AF36-506F94E9343E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42428343-ABBAE095-8950-4B01-AF36-506F94E9343E
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
P2860
Q42428343-ABBAE095-8950-4B01-AF36-506F94E9343E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42428343-ABBAE095-8950-4B01-AF36-506F94E9343E
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type
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Statement
wasDerivedFrom
16ad825e346e893b670c38d3e898d0f373166666
P2860
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures