Varaico: Literature-Extracted Genetic Variants

Gene:ASB16
Variant:p.R428Q
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ASB16

NM_080863.5:p.R428Q

Associated Papers

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Salazar-Silva R et al.

Human Molecular Genetics, 2021

33326993 (PubMed )
Supplement: supplementary_material_figure_legends_and_supplementary_tables_ddaa240.doc

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_2

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
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