Varaico: Literature-Extracted Genetic Variants

Gene:ARMC9
Variant:p.P520L
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ARMC9

NM_001352754.2:p.P520L

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.

Wang H et al.

Frontiers in Genetics, 2022

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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