Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.Q372_M373Splc
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PKLR

NM_000298.6:p.Q372_M373Splc

Associated Papers

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.

Russo R et al.

American Journal of Hematology, 2018

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

16141195 (PubMed )
Supplement: nar_33_15_4882__1.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."