Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.R93fs
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ACAN

NM_001369268.1:p.R93fs

Associated Papers

Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.

Tang W et al.

Molecular Genetics & Genomic Medicine, 2024

Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.

Yin LP et al.

World Journal of Clinical Cases, 2022

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.

Dateki S et al.

Journal of Human Genetics, 2017

ACAN mutations as a cause of familial short stature.

Dateki S

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017

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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."