Varaico: Literature-Extracted Genetic Variants

Gene:ACACB
Variant:p.P219L
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ACACB

NM_001093.4:p.P219L

Associated Papers

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Perez KKD et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36798250 (PubMed )
Supplement: media-1.xlsx › SuppTable2_VariantsOfInterest

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?

Ruaño G et al.

Pharmacogenomics, 2010

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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."