Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.M377delFs
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PKLR

NM_000298.6:p.M377delFs

Associated Papers

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Kingsmore SF et al.

American Journal of Human Genetics, 2022

36007526 (PubMed )
Supplement: mmc3.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."