Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.G409V
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TPP1

NM_000391.4:p.G409V

Associated Papers

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Gardner E et al.

Human Mutation, 2019

Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.

Corcuera-Delgado CT et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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