Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.R306H
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TUBB1

NM_030773.4:p.R306H

Associated Papers

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Qiao L et al.

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

32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3

Analysis of polymorphisms in the colchicine binding site of tubulin in colchicine-resistant familial Mediterranean fever patients.

Akbaba TH et al.

Molecular Biology Reports, 2020

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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