Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G4189*
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KMT2D

NM_003482.4:p.G4189*

Associated Papers

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.

Sakaria RP et al.

Frontiers in Genetics, 2021

34899850 (PubMed )
Supplement: DataSheet4.PDF

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Tekendo-Ngongang C et al.

Clinical Genetics, 2019

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