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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FERMT1

Variant:p.Q620_V621Splc

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FERMT1

NM_017671.5:p.Q620_V621Splc

hg38:chr20:6079435 C>G

Associated Papers

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

17460733 (PubMed )

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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."