Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.L200V
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ANOS1

NM_000216.4:p.L200V

Associated Papers

Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.

Nie M et al.

European Journal of Endocrinology, 2017

Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.

Wang F et al.

Scientific Reports, 2015

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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."