ID   HPS3165
AC   CVCL_D0YA
DR   RCB; HPS3165
DR   Wikidata; Q123032517
CC   Sequence variation: Mutation; HGNC; HGNC:1097; BRAF; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS3165).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84617; Cardiofaciocutaneous syndrome
DI   ORDO; Orphanet_1340; Cardiofaciocutaneous syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0Y6 ! HPS3161
OI   CVCL_D0Y7 ! HPS3162
OI   CVCL_D0Y8 ! HPS3163
OI   CVCL_D0Y9 ! HPS3164
OI   CVCL_D0YB ! HPS3166
SX   Male
AG   6-9Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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