Varaico: Literature-Extracted Genetic Variants

Gene:MYBBP1A
Variant:p.F35S
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MYBBP1A

NM_014520.4:p.F35S

Associated Papers

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

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.

Aslaksen S et al.

Journal of Translational Autoimmunity, 2019

32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.

Li L et al.

Oncotarget, 2017

28199965 (PubMed )
Supplement: oncotarget-08-19914-s001.pdf
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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."