Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.Y392*
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FERMT1

NM_017671.5:p.Y392*

Associated Papers

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Vaseghi P et al.

European Journal of Human Genetics : Ejhg, 2024

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Guerrero-Aspizua S et al.

Orphanet Journal of Rare Diseases, 2019

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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."