Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1081E
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KAT6B

NM_012330.4:p.E1081E

Associated Papers

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.

Rossi M et al.

American Journal of Medical Genetics. Part A, 2017

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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."