Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het
Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.
Kim IB et al.
Experimental & Molecular Medicine, 2024
39085355 (PubMed )
Supplement: 12276_2024_1284_MOESM1_ESM.pdf
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.
Barber LJ et al.
Plos One, 2011
21750719 (PubMed )
Supplement: pone.0021639.s006.xls › Sheet1
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