Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.L225_V226Splc
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TMEM63A

NM_014698.3:p.L225_V226Splc

Associated Papers

Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.

Tang X et al.

Brain : a Journal of Neurology, 2025

39852553 (PubMed )
Supplement: awaf025_supplementary_data.zip › brain-2024-02282-File010.pdf

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
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