Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.M1I
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EXT1

NM_000127.3:p.M1I

Associated Papers

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.

Eberhardt RY et al.

Genetics in Medicine Open, 2023

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

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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."