Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.A1195V
Back to variants list

SAMD9L

NM_152703.5:p.A1195V

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

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

Cheah JJC et al.

Haematologica, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."