Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2205fs
Back to variants list

KMT2D

NM_003482.4:p.A2205fs

Associated Papers

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."