Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S162*
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CLN3

NM_001042432.2:p.S162*

Associated Papers

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.

Brandes D et al.

Hemasphere, 2023

37469802 (PubMed )
Supplement: hs9-7-e925-s001.xlsx › Table_S5_

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A et al.

Neurology, 2014

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE et al.

Human Mutation, 1999

Spectrum of mutations in the Batten disease gene, CLN3.

Munroe PB et al.

American Journal of Human Genetics, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."