Varaico: Literature-Extracted Genetic Variants

Gene:ACACB
Variant:p.D436G
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ACACB

NM_001093.4:p.D436G

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

The landscape of RNA binding proteins in mammalian spermatogenesis.

Li Y et al.

Science (new York, N.y.), 2024

39208083 (PubMed )
Supplement: science.adj8172_tables_s1_to_s16.zip › science.adj8172_table_s14.xlsx › Candidate_Hom_DNS_LOF

Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.

Zhao H et al.

Protein & Cell, 2024

38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
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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."