Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R92C
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MFAP1

NM_005926.3:p.R92C

Associated Papers

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Kalm T et al.

American Journal of Human Genetics, 2024

38772379 (PubMed )
Supplement: mmc3.pdf

Mutations that rescue the paralysis of Caenorhabditis elegans ric-8 (synembryn) mutants activate the G alpha(s) pathway and define a third major branch of the synaptic signaling network.

Schade MA et al.

Genetics, 2005

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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."