Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.P725T
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H6PD

NM_004285.4:p.P725T

Associated Papers

Paraganglioma with High Levels of Dopamine, Dopa Decarboxylase Suppression, Dopamine β-hydroxylase Upregulation and Intra-tumoral Melanin Accumulation: A Case Report with a Literature Review.

Nezu M et al.

Internal Medicine (tokyo, Japan), 2023

36384901 (PubMed )
Supplement: 1349-7235-62-1895-s004.pdf

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric Research, 2017

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00013-Table_S16.xlsx › Sheet1
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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."