Varaico: Literature-Extracted Genetic Variants

Gene:DNMT1
Variant:p.R136C
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DNMT1

NM_001130823.3:p.R136C

Associated Papers

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST6

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

Brauner R et al.

Plos One, 2023

Analysis of DNMT1 gene variants in progression of neural tube defects-an in silico to in vitro approach.

Sadhukhan S et al.

Bioscience Reports, 2022

36394275 (PubMed )
Supplement: BSR-2022-0998_supp.pdf

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V et al.

Clinical Epigenetics, 2018

Crosstalk of Genetic Variants, Allele-Specific DNA Methylation, and Environmental Factors for Complex Disease Risk.

Wang H et al.

Frontiers in Genetics, 2018

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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."