Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.T2270S
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HRNR

NM_001009931.3:p.T2270S

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: Table3.XLSX › Sheet1

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Arias-Pérez RD et al.

Bmc Medical Genomics, 2021

34039366 (PubMed )
Supplement: 12920_2021_987_MOESM1_ESM.docx

Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Ke L et al.

Frontiers in Molecular Biosciences, 2021

35118119 (PubMed )
Supplement: Table3.xlsx › sheet_1

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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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."