Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.H975Y
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FBN1

NM_000138.5:p.H975Y

Associated Papers

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28518168 (PubMed )
Supplement: gim201726x1.pdf
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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."