Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.S748L
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FN1

NM_212482.4:p.S748L

Associated Papers

Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling.

Xie Y et al.

Clinical Science (london, England : 1979), 2019

30610007 (PubMed )
Supplement: cs-133-cs20180842_supp1.pdf

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH8T2
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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."