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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF469

Variant:p.Q1930R

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ZNF469

NM_001367624.2:p.Q1930R

hg38:chr16:88433259 A>G

Associated Papers

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.

Arce-González R et al.

International Ophthalmology, 2023

36048286 (PubMed )

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