Varaico: Literature-Extracted Genetic Variants

Gene:ASTN2
Variant:p.S257T
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ASTN2

NM_001365068.1:p.S257T

Associated Papers

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Poulter JA et al.

European Journal of Human Genetics : Ejhg, 2014

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