Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.C134R
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CLN3

NM_001042432.2:p.C134R

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.

Scotto Rosato A et al.

Embo Molecular Medicine, 2022

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R et al.

Biochimica Et Biophysica Acta, 2015

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S et al.

Biochimica Et Biophysica Acta, 2013

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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."