Varaico: Literature-Extracted Genetic Variants

Gene:CYP1A1
Variant:p.Q75P
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CYP1A1

NM_001319217.2:p.Q75P

Associated Papers

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2022

35668470 (PubMed )
Supplement: 13023_2022_2349_MOESM5_ESM.xlsx › ________

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 › SupplTable7._Rec_CADD20

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

Kon M et al.

Human Reproduction (oxford, England), 2015

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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."