Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.S1425L
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SHROOM2

NM_001649.4:p.S1425L

Associated Papers

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.

Casey JP et al.

Scientific Reports, 2015

26522270 (PubMed )
Supplement: srep16022-s1.pdf
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