Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.G409D
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TPP1

NM_000391.4:p.G409D

Associated Papers

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Lourenço CM et al.

Journal of Paediatrics and Child Health, 2021

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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