Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.Y209D
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CLN5

NM_006493.4:p.Y209D

Associated Papers

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.

Parshina OP et al.

Frontiers in Medicine, 2025

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Basak I et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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