Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.H199insFs
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HMBS

NM_000190.4:p.H199insFs

Associated Papers

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review.

Ren Y et al.

Frontiers in Genetics, 2023

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.

Wang X et al.

Frontiers in Genetics, 2023

38192441 (PubMed )
Supplement: Table1.XLSX › Sheet2

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

Hu Y et al.

Clinical Genetics, 2022

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