Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.P249L
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FECH

NM_000140.5:p.P249L

Associated Papers

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.

Campos-Xavier AB et al.

American Journal of Medical Genetics. Part A, 2005

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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."