Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant.
Troncoso M et al.
Clinical Case Reports, 2021
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
Ugur SA et al.
European Journal of Human Genetics : Ejhg, 2008
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