Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.R661Splc
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WDR19

NM_025132.4:p.R661Splc

Associated Papers

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.

Tang X et al.

Heliyon, 2024

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Sajovic J et al.

Genes, 2023

36833218 (PubMed )
Supplement: genes-14-00291-s001.zip › genes-2122455-supplementary.pdf

Expanding the Genetic Landscape of Usher-Like Phenotypes.

Fuster-García C et al.

Investigative Ophthalmology & Visual Science, 2019

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