Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G139R
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COL7A1

NM_000094.4:p.G139R

Associated Papers

Analysis of mutations in cutaneous squamous cell carcinoma reveals novel genes and mutations associated with patient-specific characteristics and metastasis: a systematic review.

Lobl MB et al.

Archives of Dermatological Research, 2022

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Arias-Pérez RD et al.

Bmc Medical Genomics, 2021

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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."