Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L142P
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HBB

NM_000518.5:p.L142P

Associated Papers

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Atmar K et al.

Frontiers in Immunology, 2022

A Novel Mutation in SLC7A9 Gene in Cystinuria.

Fazaeli S et al.

Iranian Journal of Kidney Diseases, 2017

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Koulivand L et al.

Urolithiasis, 2015

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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."