Varaico: Literature-Extracted Genetic Variants

Gene:MFRP
Variant:p.S74P
Back to variants list

MFRP

NM_031433.4:p.S74P

Associated Papers

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.

Surl D et al.

Translational Vision Science & Technology, 2026

41705770 (PubMed )
Supplement: tvst-15-2-22_s001.docx
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."