GEO DataSet Links for SRA (Select 10155255) - GEO DataSets

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Items: 2

Select item 3043314491.

KK-S6

Organism:: Danio rerio

Source name:: embryo_head

Platform:: GPL21741
Series:: GSE145711

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Accession:: GSM4331449

ID:: 304331449

SRA Run Selector

Select item 2001457112.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)

(Submitter supplied) Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays indicate that the patient-derived variants are hypomorphic. more...