Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.S409fs
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BBS4

NM_033028.5:p.S409fs

Associated Papers

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA et al.

Kidney International, 2016

26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
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