Varaico: Literature-Extracted Genetic Variants

Gene:HOXC13
Variant:p.R291W
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HOXC13

NM_017410.3:p.R291W

Associated Papers

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Jikuya R et al.

Ebiomedicine, 2023

37182269 (PubMed )
Supplement: mmc4.xlsx › Candidate_germline_variants

Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases.

Chen X et al.

International Journal of Ophthalmology, 2022

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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."