Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2938L
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KMT2D

NM_003482.4:p.P2938L

Associated Papers

Genetic heterogeneity during breast cancer progression in young patients.

Hagio K et al.

Breast (edinburgh, Scotland), 2021

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Sakihama S et al.

Cancer Science, 2021

33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

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

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

Hypothalamic pituitary complications in Kabuki syndrome.

Ito N et al.

Pituitary, 2013

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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."