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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLN3

Variant:p.Q352_C353Splc

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CLN3

NM_001042432.2:p.Q352_C353Splc

hg38:chr16:28482071 G>T

Associated Papers

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Radke J et al.

Annals of Clinical and Translational Neurology, 2018

30480032 (PubMed )

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