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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMBS

Variant:p.D99A

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HMBS

NM_000190.4:p.D99A

hg38:chr11:119089712 A>C

Associated Papers

Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.

Bustad HJ et al.

Iscience, 2021

33665570 (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."