Varaico: Literature-Extracted Genetic Variants

Gene:COL12A1
Variant:p.N2797S
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COL12A1

NM_004370.6:p.N2797S

Associated Papers

Membranous aplasia cutis congenita: A rare case report highlighting clinical presentation, genetic insights, and the need for comprehensive evaluation.

She QY et al.

Heliyon, 2024

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Vettore AL et al.

Genome Medicine, 2015

26395002 (PubMed )
Supplement: 13073_2015_219_MOESM12_ESM.xls › Plan1
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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."