sábado, 3 de noviembre de 2018

Genetic counseling - OMIM - NCBI

Genetic counseling - OMIM - NCBI

a hand holding a test tube with sequencing in the background



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.



MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED; MC5DM1, INCLUDED
3.
5.
8.
9.
11.
RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
Cytogenetic locations: 11q14.2
13.
14.
CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED
Cytogenetic locations: 7q21.2
16.
FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
Cytogenetic locations: 9q21.11
17.
20.

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