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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS10

Variant:p.E104delFs

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BBS10

NM_024685.4:p.E104delFs

hg38:chr12:76347673 TTC>T

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )

Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

35112343 (PubMed )

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