Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.P230A
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MED13L

NM_015335.5:p.P230A

Associated Papers

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

Mullegama SV et al.

Clinical Case Reports, 2017

28588821 (PubMed )
Supplement: CCR3-5-833-s001.docx
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