Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.M1015I
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HPS5

NM_181507.2:p.M1015I

Associated Papers

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

29312904 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Oberg JA et al.

Genome Medicine, 2016

28007021 (PubMed )
Supplement: 13073_2016_389_MOESM5_ESM.xlsx › VOUS

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP et al.

Plos One, 2016

26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
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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."