Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.L539F
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COL4A1

NM_001845.6:p.L539F

Associated Papers

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.

Bertucci F et al.

Journal of Translational Medicine, 2024

39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Matías-Pérez D et al.

Journal of Human Genetics, 2018

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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."