Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.L247fs
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ARPC1B

NM_005720.4:p.L247fs

Associated Papers

Wiskott Aldrich syndrome protein regulates non-selective autophagy and mitochondrial homeostasis in human myeloid cells.

Rivers E et al.

Elife, 2020

33135633 (PubMed )
Supplement: elife-55547-fig1-data1.docx

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED et al.

Nature, 2020

32499645 (PubMed )
Supplement: EMS85907-supplement-Supplementary_Information.pdf
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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."