Varaico: Literature-Extracted Genetic Variants

Gene:MTPAP
Variant:p.E438Splc
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MTPAP

NM_018109.4:p.E438Splc

Associated Papers

Clinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review.

Ravanbod M et al.

Gene, 2025

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants
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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."