Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH11
Variant:p.G110Splc
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GPATCH11

NM_174931.4:p.G110Splc

Associated Papers

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Zanetti A et al.

Nature Communications, 2024

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