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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGFR1

Variant:p.K618delFs

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FGFR1

NM_023110.3:p.K618delFs

hg38:chr8:38415870 CTT>C

Associated Papers

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N et al.

Journal of Medical Genetics, 2013

23812909 (PubMed )

Supplement: jmedgenet-2013-101603-s1.pdf

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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."