Varaico: Literature-Extracted Genetic Variants

Gene:MKS1
Variant:p.E471fs
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MKS1

NM_017777.4:p.E471fs

Associated Papers

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.

Qin Y et al.

Bmc Medical Genomics, 2023

[Clinical and genetic analyses of Joubert syndrome in children].

Zhang GY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1.

Lin T et al.

Frontiers in Genetics, 2022

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