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Q36341418-A03B2160-ED8F-4911-BD6C-D987C3C29C7C
Q36341418-A03B2160-ED8F-4911-BD6C-D987C3C29C7C
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http://www.wikidata.org/entity/statement/Q36341418-A03B2160-ED8F-4911-BD6C-D987C3C29C7C
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
P2860
Q36341418-A03B2160-ED8F-4911-BD6C-D987C3C29C7C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36341418-A03B2160-ED8F-4911-BD6C-D987C3C29C7C
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wasDerivedFrom
f6315697151e24814d87193623acc657ee1d6e1e
P2860
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I