Varaico: Literature-Extracted Genetic Variants

Gene:SRP19
Variant:p.E63_K64Splc
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SRP19

NM_003135.3:p.E63_K64Splc

Associated Papers

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.

Linder MI et al.

Blood, 2023

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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."