Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.T503K
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ACAN

NM_001369268.1:p.T503K

Associated Papers

Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.

Lv S et al.

Frontiers in Genetics, 2022

Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.

Lv S et al.

Frontiers in Cell and Developmental Biology, 2021

34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
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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."