Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.S28W
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ACAN

NM_001369268.1:p.S28W

Associated Papers

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.

Mutai H et al.

Plos Genetics, 2020

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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."