Varaico: Literature-Extracted Genetic Variants

Gene:HPD
Variant:p.A277_I278Splc
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HPD

NM_002150.3:p.A277_I278Splc

Associated Papers

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).

Beyzaei Z et al.

Orphanet Journal of Rare Diseases, 2022

Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases.

Kahraman AB et al.

Molecular Syndromology, 2022

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.

Barroso F et al.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2020

Tyrosinemia Type III detected via neonatal screening: management and outcome.

Heylen E et al.

Molecular Genetics and Metabolism, 2012

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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."