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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS5

Variant:p.E245G

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BBS5

NM_152384.3:p.E245G

hg38:chr2:169499538 A>G

Associated Papers

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Rao AR et al.

Genes, 2023

36833331 (PubMed )

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