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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBR1

Variant:p.L1343fs

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UBR1

NM_174916.3:p.L1343fs

hg38:chr15:42984913 CAG>N

Associated Papers

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

Demir D et al.

Journal of Pediatric Genetics, 2022

35769968 (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."