Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.E947*
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DNHD1

NM_144666.3:p.E947*

Associated Papers

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

36833203 (PubMed )
Supplement: genes-14-00277-s001.zip › 09.11.22_Supplementary_tables_v9.xlsx › 3

BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Roohollahi K et al.

Scientific Reports, 2022

34997070 (PubMed )
Supplement: 41598_2021_4042_MOESM2_ESM.xlsx › Supp.File.1

Exome-wide rare variant analysis in familial essential tremor.

Diez-Fairen M et al.

Parkinsonism & Related Disorders, 2021

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.

Ferreira EN et al.

Translational Oncology, 2019

31419696 (PubMed )
Supplement: mmc1.xlsx › Table_S2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
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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."