Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.H514Y
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PRF1

NM_001083116.3:p.H514Y

Associated Papers

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.

Zarzour W et al.

Molecular Genetics and Metabolism, 2005

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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."