Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP48
Variant:p.E10E
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SNRNP48

NM_152551.4:p.E10E

Associated Papers

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D et al.

Nature Communications, 2015

26522830 (PubMed )
Supplement: ncomms9718-s1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."