Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.F366_R367insFs
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NSDHL

NM_015922.3:p.F366_R367insFs

Associated Papers

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E et al.

American Journal of Medical Genetics. Part A, 2015

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW et al.

American Journal of Human Genetics, 2010

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

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