Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.P670delFs
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GNPTAB

NM_024312.5:p.P670delFs

Associated Papers

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals KL et al.

Prenatal Diagnosis, 2018

29096039 (PubMed )
Supplement: PD-38-33-s002.xlsx › Sheet1
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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."