Associated Papers
Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.
Zhou W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_7
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Dinwiddie DL et al.
Bmc Medical Genomics, 2013
24044690 (PubMed )
Supplement: 1755-8794-6-32-S1.docx
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