Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP3
Variant:p.S1848L
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HIVEP3

NM_024503.5:p.S1848L

Associated Papers

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
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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."