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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EVC

Variant:p.L248F

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EVC

NM_153717.3:p.L248F

hg38:chr4:5741755 C>T

Associated Papers

Some chondrodysplasias with short limbs: molecular perspectives.

Cohen MM

American Journal of Medical Genetics, 2002

12357475 (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."