Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R2625L
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KMT2A

NM_001197104.2:p.R2625L

Associated Papers

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Yue X et al.

Clinical Endocrinology, 2025

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).

Koenigbauer JT et al.

Archives of Gynecology and Obstetrics, 2024

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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."