Varaico: Literature-Extracted Genetic Variants

Gene:PSIP1
Variant:p.A453V
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PSIP1

NM_033222.5:p.A453V

Associated Papers

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Flex E et al.

Genes, 2021

34573388 (PubMed )
Supplement: genes-12-01406-s001.zip › genes-1354874-supplementary.pdf

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_5.xlsx › Somatic_SNVs_indels_recurrence
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