Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.R1188*
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SAMD9L

NM_152703.5:p.R1188*

Associated Papers

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.

Erlacher M et al.

Haematologica, 2024

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Nature Medicine, 2021

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB et al.

Haematologica, 2018

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G et al.

Nature, 2012

22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_5.xlsx › Tier1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."