Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.S85fs
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FILIP1

NM_015687.5:p.S85fs

Associated Papers

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Cuvertino S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31949313 (PubMed )
Supplement: 41436_2019_743_MOESM1_ESM.docx
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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."