Varaico: Literature-Extracted Genetic Variants

Gene:FAM178B
Variant:p.P359T
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FAM178B

NM_001122646.3:p.P359T

Associated Papers

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

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E et al.

Human Molecular Genetics, 2019

31039582 (PubMed )
Supplement: hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx › Supplementary_table
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