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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT140

Variant:p.K1320del1

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IFT140

NM_014714.4:p.K1320del1

hg38:chr16:1519959 CTCT>C

Associated Papers

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.

Al-Bdour M et al.

Molecular Vision, 2020

32587456 (PubMed )

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