Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.H1161R
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TNXB

NM_001365276.2:p.H1161R

Associated Papers

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-001

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.

Tajuddin SM et al.

American Journal of Human Genetics, 2016

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Syx D et al.

Disease Markers, 2015

The role of TNXB single-nucleotide polymorphisms in recurrent shoulder dislocation.

Geiger EV et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2013

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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."