Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.H658Y
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MAMLD1

NM_005491.5:p.H658Y

Associated Papers

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E et al.

American Journal of Human Genetics, 2002

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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."