| 000 | 01413 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250518062153.0 | ||
| 264 | 0 | _c20210519 | |
| 008 | 202105s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23925 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aScheps, Karen G | |
| 245 | 0 | 0 |
_aCurating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. _h[electronic resource] |
| 260 |
_bHuman mutation _c01 2020 |
||
| 300 |
_a81-102 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aComputational Biology _xmethods |
| 650 | 0 | 4 | _aDatabases, Genetic |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aHemoglobins _xchemistry |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLoss of Function Mutation |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aOpen Reading Frames |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSensitivity and Specificity |
| 650 | 0 | 4 |
_aalpha-Globins _xchemistry |
| 650 | 0 | 4 |
_abeta-Globins _xchemistry |
| 700 | 1 | _aHasenahuer, Marcia A | |
| 700 | 1 | _aParisi, Gustavo | |
| 700 | 1 | _aTargovnik, Héctor M | |
| 700 | 1 | _aFornasari, María S | |
| 773 | 0 |
_tHuman mutation _gvol. 41 _gno. 1 _gp. 81-102 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23925 _zAvailable from publisher's website |
| 999 |
_c30143420 _d30143420 |
||