Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.E135_T136delFs
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HMBS

NM_000190.4:p.E135_T136delFs

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
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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."