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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SNRPE

Variant:p.D51E

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SNRPE

NM_003094.4:p.D51E

hg38:chr1:203865049 T>A

Associated Papers

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.

Chen T et al.

Plos Genetics, 2019

31671093 (PubMed )

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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."