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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MSGN1

Variant:p.S46N

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MSGN1

NM_001105569.3:p.S46N

hg38:chr2:17816655 G>A

Associated Papers

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Koparir A et al.

Human Genomics, 2024

38448978 (PubMed )

Supplement: 40246_2024_593_MOESM8_ESM.docx

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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."