Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.P335L
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H6PD

NM_004285.4:p.P335L

Associated Papers

Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.

Peng Q et al.

Plos One, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 143.91

A reverse dot blot assay for the expanded screening of eleven Chinese G6PD mutations.

Lu X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.

Yan JB et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations.

Yan T et al.

Haematologica, 2006

[The preliminary study on the gene mutations of sixty patients with G6PD deficiency in Yunnan province].

Yang Z et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2000

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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."