Varaico: Literature-Extracted Genetic Variants

Gene:MLPH
Variant:p.R35Q
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MLPH

NM_024101.7:p.R35Q

Associated Papers

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

Huang Q et al.

Frontiers in Medicine, 2022

Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.

Dagnewu KY et al.

International Journal of Dermatology, 2020

[Griscelli syndrome type 3: A new case].

Kassem Youssef H et al.

Annales De Dermatologie Et De Venereologie, 2018

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."