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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBR1

Variant:p.L1406_V1407Splc

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UBR1

NM_174916.3:p.L1406_V1407Splc

hg38:chr15:42976878 A>C

Associated Papers

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.

Singh A et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2014

24052374 (PubMed )

Johanson-blizzard syndrome.

Godbole K et al.

Indian Pediatrics, 2013

23778732 (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."