Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.T177M
Back to variants list

CYP7B1

NM_004820.5:p.T177M

Associated Papers

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.

Khani M et al.

Journal of Neurology, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."