Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.Q414_L415Splc
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DDX11

NM_030653.4:p.Q414_L415Splc

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

Germline HAVCR2 mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis.

Moonla C et al.

Haematologica, 2023

37051767 (PubMed )
Supplement: 2022_282419_MOONLA_SUPPL.pdf

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2022

35668470 (PubMed )
Supplement: 13023_2022_2349_MOESM5_ESM.xlsx › ________

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

35966080 (PubMed )
Supplement: Table_1.xlsx › Table_S4
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