Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.W3961insFs
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ALMS1

NM_001378454.1:p.W3961insFs

Associated Papers

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.

Best S et al.

Journal of Medical Genetics, 2022

35764379 (PubMed )
Supplement: jmedgenet-2022-108476supp001.pdf
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