Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.G223delFs
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DSPP

NM_014208.3:p.G223delFs

Associated Papers

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Ott T et al.

Frontiers in Physiology, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 115.81
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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."