Varaico: Literature-Extracted Genetic Variants

Gene:SMCR8
Variant:p.L493F
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SMCR8

NM_144775.3:p.L493F

Associated Papers

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing
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