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Q36341418-A1EF9C13-6A75-4E39-8788-434E57FF966C
Q36341418-A1EF9C13-6A75-4E39-8788-434E57FF966C
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http://www.wikidata.org/entity/statement/Q36341418-A1EF9C13-6A75-4E39-8788-434E57FF966C
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
P2860
Q36341418-A1EF9C13-6A75-4E39-8788-434E57FF966C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36341418-A1EF9C13-6A75-4E39-8788-434E57FF966C
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9c6a06aa54d94bde7bc8b033f842e076007d20ea
P2860
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I