BMC Med Genet

BMC Med Genet

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Last Updated: Aug 05, 2025

A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to se…

Akabane S, Hinoi T, Akagi K, Yamamoto H, Sada H, Shimizu Y, Shimizu W, Sudo T, Onoe T, Ishiyama K, …

2020 PMID: 32611331
3/7
Data COI Funding
A case report of NPHP1 deletion in Chinese twins with nephronophthisis.

Chen F, Dai L, Zhang J, Li F, Cheng J, Zhao J, Zhang B.

2020 PMID: 32306954
2/7
COI Funding
A case report of Proteus syndrome (PS).

Zeng X, Wen X, Liang X, Wang L, Xu L.

2020 PMID: 31964351
2/7
COI Funding
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly…

Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram…

2020 PMID: 32943010
3/7
Data COI Funding
ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women.

Cerda-Flores RM, Camarillo-Cárdenas KP, Gutiérrez-Orozco G, Villarreal-Vela MP, Garza-Guajardo R, P…

2020 PMID: 32977760
3/7
COI Funding
Data COI Funding
Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart …

Hua L, Yuan JX, He S, Zhao CH, Jia QW, Zhang J, An FH, Chen ZH, Li LH, Wang LS, Ma WZ, Xu GX, Jia E…

2020 PMID: 32066403
2/7
COI Funding
Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germlin…

Bobyn A, Zarrei M, Zhu Y, Hoffman M, Brenner D, Resnick AC, Scherer SW, Gallo M.

2020 PMID: 32375678
3/7
Data COI Funding
Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations.

Chande AT, Rishishwar L, Conley AB, Valderrama-Aguirre A, Medina-Rivas MA, Jordan IK.

2020 PMID: 32580712
2/7
COI Funding