Varaico: Literature-Extracted Genetic Variants

Gene:ETAA1
Variant:p.E189delFs
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ETAA1

NM_019002.4:p.E189delFs

Associated Papers

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

Accogli A et al.

Nature Communications, 2024

38191484 (PubMed )
Supplement: 41467_2023_44611_MOESM4_ESM.xlsx › WDR44_family1
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