Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.G348fs
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NSDHL

NM_015922.3:p.G348fs

Associated Papers

Mutational spectrum of NSDHL in CHILD syndrome.

Bornholdt D et al.

Journal of Medical Genetics, 2005

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Mi XB et al.

Pediatric Dermatology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."