Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.D1034Y
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SAMD9L

NM_152703.5:p.D1034Y

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

37584291 (PubMed )
Supplement: 2023_283591_ERLACHER_SUPPL.pdf

New SAMD9L heterozygous mutation leading to myelodysplastic syndrome and acute myeloid leukemia: A case report and review of the literature.

Monagel DA

Cancer Reports (hoboken, N.j.), 2023

Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.

Nagamachi A et al.

The Journal of Clinical Investigation, 2021

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Cheah JJC et al.

Haematologica, 2019

A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Bluteau O et al.

Blood, 2018

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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."