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Q47134038-CE394A2C-4E8A-48F9-A8F6-46153E3F6770
Q47134038-CE394A2C-4E8A-48F9-A8F6-46153E3F6770
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http://www.wikidata.org/entity/statement/Q47134038-CE394A2C-4E8A-48F9-A8F6-46153E3F6770
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.
P2860
Q47134038-CE394A2C-4E8A-48F9-A8F6-46153E3F6770
BestRank
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http://www.wikidata.org/entity/statement/Q47134038-CE394A2C-4E8A-48F9-A8F6-46153E3F6770
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bc4be8cfef77a8d834304c93187aafff3d9f8ad3
P2860
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I