Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.A296T
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SIX5

NM_175875.5:p.A296T

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.

Neal SJ et al.

Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2024

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Ramensky VE et al.

Frontiers in Genetics, 2021

34691145 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_3

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE et al.

American Journal of Human Genetics, 2007

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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."