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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FH

Variant:p.T143_N152delFs

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FH

NM_000143.4:p.T143_N152delFs

hg38:chr1:241512066 ATTCATATTTGTCTGAGTTCCTGATCCAG>A

Associated Papers

ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers.

Kyo C et al.

Journal of the Endocrine Society, 2019

31555754 (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."