Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.E4*
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BSND

NM_057176.3:p.E4*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Riazuddin S et al.

American Journal of Human Genetics, 2009

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_2
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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."