Varaico: Literature-Extracted Genetic Variants

Gene:MLPH
Variant:p.E98*
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MLPH

NM_024101.7:p.E98*

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: A new case].

Kassem Youssef H et al.

Annales De Dermatologie Et De Venereologie, 2018

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Cağdaş D et al.

European Journal of Pediatrics, 2012

Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.

Nouriel A 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."