Varaico: Literature-Extracted Genetic Variants

Gene:PIGV
Variant:p.R203C
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PIGV

NM_017837.4:p.R203C

Associated Papers

Integrating rapid exome sequencing into NICU clinical care after a pilot research study.

D'Gama AM et al.

Npj Genomic Medicine, 2022

36064943 (PubMed )
Supplement: 41525_2022_326_MOESM1_ESM.xlsx › Sheet1

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Evers C et al.

Molecular Genetics and Metabolism, 2017

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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."