Varaico: Literature-Extracted Genetic Variants

Gene:IGSF10
Variant:p.V1995I
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IGSF10

NM_178822.5:p.V1995I

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.

Barroso PS et al.

Neuroendocrinology, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278
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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."