Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B4
Variant:p.L535F
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ATP8B4

NM_024837.4:p.L535F

Associated Papers

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

de Rojas I et al.

Alzheimer's Research & Therapy, 2025

41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

Krausz C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32741963 (PubMed )
Supplement: NIHMS1619687-supplement-Supplementary_Table_2.xlsx › Hoja1

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.

Bainbridge MN et al.

Bmc Medical Genetics, 2017

28253841 (PubMed )
Supplement: 12881_2017_385_MOESM1_ESM.pdf

Input of exome sequencing in early-onset cerebral amyloid angiopathy.

Grangeon L et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 0

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