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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FSCN1

Variant:p.K131*

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FSCN1

NM_003088.4:p.K131*

hg38:chr7:5593327 A>T

Associated Papers

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Neocleous V et al.

Clinical Biochemistry, 2009

19501079 (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."