Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.M1359I
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UBR1

NM_174916.3:p.M1359I

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Sun Y et al.

Frontiers in Genetics, 2019

31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population.

Yamaguchi Y et al.

Bmc Medical Genetics, 2008

Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.

Masamune A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0

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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."