NPC1 c.544G>C ;(p.D182H)

Variant ID: 18-21141411-C-G

NM_000271.4(NPC1):c.544G>C;(p.D182H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD
Publication Date: 2016-01

Variant appearance in text: NPC1: D182H
PubMed Link: 25764212
Variant Present in the following documents:
  • Main text
  • emss-62276.pdf
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