Varaico: Literature-Extracted Genetic Variants

Gene:BMP8B
Variant:p.R260C
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BMP8B

NM_001720.5:p.R260C

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Clonal germinal center B cells function as a niche for T-cell lymphoma.

Fujisawa M et al.

Blood, 2022

35921527 (PubMed )
Supplement: BLOOD_BLD-2022-015451-mmc1.xlsx › supplemental_Table_6

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Turkyilmaz A et al.

Journal of Assisted Reproduction and Genetics, 2022

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

França MM et al.

Plos One, 2020

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