Varaico: Literature-Extracted Genetic Variants

Gene:WDR44
Variant:p.H839R
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WDR44

NM_019045.5:p.H839R

Associated Papers

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

Sneddon TP et al.

American Journal of Medical Genetics. Part A, 2025

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

Accogli A et al.

Nature Communications, 2024

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