Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3L
Variant:p.R278G
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DNMT3L

NM_175867.3:p.R278G

Associated Papers

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

Interaction of nutrition and genetics via DNMT3L-mediated DNA methylation determines cognitive decline.

Flitton M et al.

Neurobiology of Aging, 2019

Association between DNMT3L polymorphic variants and the risk of endometriosis-associated infertility.

Mostowska A et al.

Molecular Medicine Reports, 2016

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.

Stouffs K et al.

Reproductive Biomedicine Online, 2011

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.

Hayward BE et al.

Bmc Genetics, 2003

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.

Zhang W et al.

Genes and Immunity, 0

23615072 (PubMed )
Supplement: NIHMS458938-supplement-1.xls › Supplemental_table_3
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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."