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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKLR

Variant:p.T379_K380del1

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PKLR

NM_000298.6:p.T379_K380del1

hg38:chr1:155293567 CTTG>C

Associated Papers

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Pajusalu S et al.

Molecular Syndromology, 2015

26733775 (PubMed )

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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."