Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.P305S
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PMEL

NM_001384361.1:p.P305S

Associated Papers

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Gaikwad P et al.

Journal of Clinical Immunology, 2024

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Lu D et al.

Orphanet Journal of Rare Diseases, 2020

[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].

Han F et al.

Zhonghua Yi Xue Za Zhi, 2014

[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].

Wang Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."