Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.T221P
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HTRA2

NM_013247.5:p.T221P

Associated Papers

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.

Gurusamy U et al.

Frontiers in Genetics, 2023

Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.

Usha Devi R et al.

European Journal of Medical Genetics, 2021

3-Methylglutaconic aciduria type VIII in an Indian neonate.

Sreedhara MS et al.

Birth Defects Research, 2020

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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."