Varaico: Literature-Extracted Genetic Variants

Gene:MLPH
Variant:p.Q72R
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MLPH

NM_024101.7:p.Q72R

Associated Papers

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits.

Demars J et al.

Genes, 2018

30142960 (PubMed )
Supplement: genes-09-00430-s001.pdf

Two-exon skipping within MLPH is associated with coat color dilution in rabbits.

Lehner S et al.

Plos One, 2013

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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."