Varaico: Literature-Extracted Genetic Variants

Gene:MLPH
Variant:p.R24*
Back to variants list

MLPH

NM_024101.7:p.R24*

Associated Papers

Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient.

Huang Q et al.

Frontiers in Medicine, 2022

Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.

Wasif N et al.

The Journal of Dermatology, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."