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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC21B

Variant:p.F440fs

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TTC21B

NM_024753.5:p.F440fs

hg38:chr2:165929203 AAA>N

Associated Papers

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

35112343 (PubMed )

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )

Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf

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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."