VARIANT: 5979v3
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Entry
5979v3 Variant
Name
RET mutation
Type
Loss of function
Gene
RET
ret proto-oncogene [KO:
K05126
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
164761
Network
nt06526
MAPK signaling
Disease
H00910
Hirschsprung disease
Reference
PMID:
35283407
Authors
Takahashi M
Title
RET receptor signaling: Function in development, metabolic disease, and cancer.
Journal
Proc Jpn Acad Ser B Phys Biol Sci 98:112-125 (2022)
DOI:
10.2183/pjab.98.008
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