Varaico: Literature-Extracted Genetic Variants

Gene:TENT5A
Variant:p.G25D
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TENT5A

NM_017633.3:p.G25D

Associated Papers

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

37076969 (PubMed )
Supplement: JBMR-38-896-s002.xlsx › S.Table3

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Borràs E et al.

Clinical Genetics, 2013

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.

Barragán I et al.

Annals of Human Genetics, 2008

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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."