Associated Papers
Expanding the mutational spectrum of congenital microcephaly in Pakistani families.
Farooq S et al.
Frontiers in Genetics, 2025
41555927 (PubMed )
Supplement: Table1.xlsx › Family_3_ASPM
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: Table3.XLSX › Sheet1
Characterization of the novel HLA-DQA1*03:11 allele by next-generation sequencing.
Genebrier S et al.
Hla, 2021
Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira MAR et al.
Plos Genetics, 2020
32603359 (PubMed )
Supplement: pgen.1008725.s024.xls › Supp_Table_11
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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