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Q47804519-C5DF2303-6217-4301-9A55-479267F38696
Q47804519-C5DF2303-6217-4301-9A55-479267F38696
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47804519-C5DF2303-6217-4301-9A55-479267F38696
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.
P2860
Q47804519-C5DF2303-6217-4301-9A55-479267F38696
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47804519-C5DF2303-6217-4301-9A55-479267F38696
rank
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wasDerivedFrom
45986a18f3235bd6aee762a460ef4106b6cfbdc8
P2860
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.