Varaico: Literature-Extracted Genetic Variants

Gene:ABCA9
Variant:p.P1453T
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ABCA9

NM_080283.4:p.P1453T

Associated Papers

Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study.

Azzarà A et al.

Biology, 2022

36358266 (PubMed )
Supplement: biology-11-01565-s001.zip › biology-1948480-supplementary.pdf

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

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Kim JW et al.

Clinical Genetics, 2019

30506946 (PubMed )
Supplement: CGE-95-375-s001.pdf

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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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."