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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MATN3

Variant:p.I187insFs

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MATN3

NM_002381.5:p.I187insFs

hg38:chr2:20005974 A>ACAGTG

Associated Papers

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Kakar N et al.

Clinical Genetics, 2024

38378010 (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."