Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.S1430R
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UBR1

NM_174916.3:p.S1430R

Associated Papers

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf

Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center.

Ye Z et al.

Pancreas, 0

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