Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.L227V
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AKAP6

NM_004274.5:p.L227V

Associated Papers

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C et al.

Journal of Medical Genetics, 2020

32005695 (PubMed )
Supplement: jmedgenet-2019-106528supp001.pdf
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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."