Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.E72_Y73Splc
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OTC

NM_000531.6:p.E72_Y73Splc

Associated Papers

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Kido J et al.

American Journal of Medical Genetics. Part A, 2021

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.

Nguyen HH et al.

Frontiers in Pediatrics, 2020

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Silvera-Ruiz SM et al.

Orphanet Journal of Rare Diseases, 2019

Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Li C et al.

Scientific Reports, 2015

26503331 (PubMed )
Supplement: srep14237-s4.xls › Sheet1
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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."