Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2205insFs
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KMT2D

NM_003482.4:p.A2205insFs

Associated Papers

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Takagi M et al.

Pituitary, 2014

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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."