Varaico: Literature-Extracted Genetic Variants

Gene:C19orf44
Variant:p.L326delFs
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C19orf44

NM_032207.4:p.L326delFs

Associated Papers

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Hussain HMJ et al.

Journal of Medical Genetics, 2025

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Lin D et al.

Bmc Medical Genomics, 2023

36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20
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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."