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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAN

Variant:p.G152Splc

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ACAN

NM_001369268.1:p.G152Splc

hg38:chr15:88839051 G>A

Associated Papers

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.

Rajala K et al.

Prenatal Diagnosis, 2022

35611473 (PubMed )

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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."