Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q212E
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FH

NM_000143.4:p.Q212E

Associated Papers

Simultaneous bilateral laparoscopic cortical-sparing adrenalectomy for bilateral pheochromocytomas in multiple endocrine neoplasia type 2.

Qi XP et al.

Frontiers in Surgery, 2022

Gln212, Asn270, and Arg301 are critical for catalysis by adenylosuccinate lyase from Bacillus subtilis.

Segall ML et al.

Biochemistry, 2004

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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."