Varaico: Literature-Extracted Genetic Variants

Gene:MYO5A
Variant:p.R778*
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MYO5A

NM_001382347.1:p.R778*

Associated Papers

Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.

Khorram E et al.

Molecular Genetics and Genomics : Mgg, 2023

Griscelli syndrome: a model system to study vesicular trafficking.

Van Gele M et al.

Pigment Cell & Melanoma Research, 2009

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation.

Aricò M et al.

Bone Marrow Transplantation, 2002

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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."