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Q47134038-5B41B3CF-7BF3-458C-BEE2-FC06F0854666
Q47134038-5B41B3CF-7BF3-458C-BEE2-FC06F0854666
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http://www.wikidata.org/entity/statement/Q47134038-5B41B3CF-7BF3-458C-BEE2-FC06F0854666
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.
P2860
Q47134038-5B41B3CF-7BF3-458C-BEE2-FC06F0854666
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47134038-5B41B3CF-7BF3-458C-BEE2-FC06F0854666
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359d6b2877a013840464de5fa09cfd15b8389130
P2860
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I