Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.V549M
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HAL

NM_002108.4:p.V549M

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

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095
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