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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MN1

Variant:p.S1282_V1283delFs

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MN1

NM_002430.3:p.S1282_V1283delFs

hg38:chr22:27751028 GGACA>G

Associated Papers

MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.

Unknown Author

American Journal of Medical Genetics. Part A, 2020

32153127 (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."