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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT172

Variant:p.M690delFs

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IFT172

NM_015662.3:p.M690delFs

hg38:chr2:27462745 GC>G

Associated Papers

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Neřoldová M et al.

Plos One, 2023

37471416 (PubMed )

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