Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.T644I
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GNPTAB

NM_024312.5:p.T644I

Associated Papers

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.

Sperb-Ludwig F et al.

Genetics and Molecular Biology, 2023

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Elias R et al.

Cell Reports, 2021

34818533 (PubMed )
Supplement: NIHMS1761779-supplement-Table_S8.xlsx › Sheet1

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a549_f40r3
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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."