Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.E416D
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BBS4

NM_033028.5:p.E416D

Associated Papers

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Lynn J et al.

Genes, 2024

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S3_Likely_solved_patients_and_variants.xls › Likely_solved_patients
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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."