Varaico: Literature-Extracted Genetic Variants

Gene:IFT43
Variant:p.F180L
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IFT43

NM_001102564.3:p.F180L

Associated Papers

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA et al.

Kidney International, 2016

26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
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