Varaico: Literature-Extracted Genetic Variants

Gene:DHX38
Variant:p.T1221M
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DHX38

NM_014003.4:p.T1221M

Associated Papers

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.

Olkinuora A et al.

Leukemia, 2023

37696923 (PubMed )
Supplement: 41375_2023_2021_MOESM10_ESM.xlsx › Table_S5

Elucidation of the genetic causes of bicuspid aortic valve disease.

Gehlen J et al.

Cardiovascular Research, 2023

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.

Yang B et al.

Nature Communications, 2017

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

27353947 (PubMed )
Supplement: srep28755-s1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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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."